A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15881702



Internal ID19953642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81690786..81697133hg38UCSC Ensembl
chr3:81739937..81746284hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg386348
hg196348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4082800
Supporting Variants
Samples
Known GenesGBE1
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)nssv15881702
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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