A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967832



Internal ID19693086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27520763..27521306hg38UCSC Ensembl
chr2:27743630..27744173hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4052669
Supporting Variants
Samples
Known GenesGCKR
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)nssv15967832
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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