A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959626



Internal ID20031566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63535251..63553924hg38UCSC Ensembl
chr17:61612612..61631285hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3818674
hg1918674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4258525
Supporting Variants
Samples
Known GenesDCAF7, KCNH6
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 ID32461652
Accession Number(s)nssv15959626
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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