A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952606



Internal ID19677860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92925956..92970921hg38UCSC Ensembl
chr14:93392301..93437266hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3844966
hg1944966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4222110
Supporting Variants
Samples
Known GenesCHGA, ITPK1
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)nssv15952606
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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