A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968950



Internal ID20040890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43775413..43860602hg38UCSC Ensembl
chr2:44002552..44087741hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3885190
hg1985190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4070112
Supporting Variants
Samples
Known GenesABCG5, ABCG8, DYNC2LI1
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)nssv15968950
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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