A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946500



Internal ID19671754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13968520..13998120hg38UCSC Ensembl
chrY:16080400..16110000hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg3829601
hg1929601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4046862
Supporting Variants
Samples
Known GenesVCY, VCY1B
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15946500
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000093


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