A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970153



Internal ID19695407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159845703..160009146hg38UCSC Ensembl
chr2:160702214..160865657hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38163444
hg19163444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4080028
Supporting Variants
Samples
Known GenesLY75, LY75-CD302, PLA2R1
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)nssv15970153
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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