A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968516



Internal ID19693770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70732382..70738468hg38UCSC Ensembl
chr2:70959514..70965600hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386087
hg196087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071821
Supporting Variants
Samples
Known GenesADD2
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)nssv15968516
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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