A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16015077



Internal ID20087033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23696371..23696372hg38UCSC Ensembl
chr16:23707692..23707693hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4546718
Supporting Variants
Samples
Known GenesERN2
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)nssv16015077
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006918


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