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About the Structural Variation category
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0
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229
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June 28, 2023
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Urgent query - discrepancy between SVs v2.1 & SVs v4.1: missing hemizygotes in the larger dataset
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2
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83
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July 6, 2026
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Filtering the v4 Exome CNV VCF
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0
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43
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July 1, 2026
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Best practices for filtering Manta SV calls before comparison with gnomAD-SV?
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0
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55
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June 9, 2026
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Centromeric DEL detected by Manta and visible in coverage, but missing from gnomAD-SV
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2
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75
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June 6, 2026
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Homozygotes enrichment in repeated regions
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0
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38
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May 31, 2026
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BLK duplication variants
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2
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99
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May 4, 2026
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Structural variants
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1
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81
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May 4, 2026
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Skewed sex distribution of SVs in PAR1
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2
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72
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May 4, 2026
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SV download not matching online browser
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4
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84
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April 14, 2026
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GnomAD SVs v4 - discrepancy between hemizygote & male (XY) counts
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15
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576
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April 6, 2026
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Genotype quality for SV call in v4
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1
|
113
|
November 26, 2025
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Urgent query-Genotype Quality for SVs in gnomAD v4.1.0
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3
|
115
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November 20, 2025
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Gene Deletions as LOF?
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2
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78
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November 19, 2025
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SV breakpoints -- are they grouped? How are they determined?
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2
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373
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September 14, 2025
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Clarification on a 117-bp deletion variant DEL_CHR11_B8445432
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1
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94
|
August 19, 2025
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The positions of two deletions are identical. Why weren’t they merged into a single entry?
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1
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100
|
August 19, 2025
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Is there a data dictionary for the gnomad v4 Structural Variant bed file?
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1
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98
|
May 27, 2025
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Third common allele
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1
|
95
|
May 6, 2025
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MCNV reference copy states in chr X and chr Y
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1
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91
|
March 5, 2025
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Missing END2 in Gnomad SVs VCF
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1
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102
|
February 20, 2025
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PhyloP indel scores
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1
|
210
|
February 13, 2025
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Figure broken in SV gnomAD 4 post
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1
|
74
|
January 31, 2025
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Quality score in gnomAD SVs v4.1.0
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1
|
129
|
December 18, 2024
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How to merge multiple variants into the same CNV?
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0
|
96
|
November 13, 2024
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GnomAD SVs v4, X-chromosome: homozygous males
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|
1
|
163
|
November 5, 2024
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Gnomad structural variants bed file
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|
11
|
765
|
September 4, 2024
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V4.1 Structural Variants BED files
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|
1
|
210
|
July 29, 2024
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Genotype quality for assessing CNV in gnomAD SV v4?
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1
|
258
|
July 22, 2024
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SV genotype quality threshold
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1
|
246
|
June 20, 2024
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