A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957937



Internal ID19683191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46879728..47671590hg38UCSC Ensembl
chr17:44957094..45748956hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38791863
hg19791863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4255183
Supporting Variants
Samples
Known GenesCDC27, EFCAB13, GOSR2, ITGB3, KPNB1, MIR5089, MRPL45P2, MYL4, NPEPPS, RPRML
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)nssv15957937
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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