A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15831789



Internal ID19557189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57676336..57679786hg38UCSC Ensembl
chr16:57710248..57713698hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383451
hg193451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4236127
Supporting Variants
Samples
Known GenesGPR97
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)nssv15831789
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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