A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16047536



Internal ID19772790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43694068..43694069hg38UCSC Ensembl
chr3:43735560..43735561hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4545134
Supporting Variants
Samples
Known GenesABHD5
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)nssv16047536
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.13071


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