A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969005



Internal ID19694259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61063157..61173368hg38UCSC Ensembl
chr2:61290292..61400503hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38110212
hg19110212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4055234
Supporting Variants
Samples
Known GenesC2orf74, KIAA1841, LOC339803
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)nssv15969005
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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