A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960646



Internal ID19685900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59053841..59131521hg38UCSC Ensembl
chr17:57131202..57208882hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3877681
hg1977681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4270896
Supporting Variants
Samples
Known GenesSKA2, TRIM37
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)nssv15960646
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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