A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977637



Internal ID19702891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113013644..113030532hg38UCSC Ensembl
chr5:112349341..112366229hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3816889
hg1916889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4123549
Supporting Variants
Samples
Known GenesDCP2, MCC
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)nssv15977637
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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