A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15826601



Internal ID19552001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63532031..63570779hg38UCSC Ensembl
chr15:63824230..63862978hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3838749
hg1938749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234086
Supporting Variants
Samples
Known GenesUSP3
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)nssv15826601
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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