A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15879997



Internal ID19951937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44914256..44915704hg38UCSC Ensembl
chr3:44955748..44957196hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381449
hg191449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521659
Supporting Variants
Samples
Known GenesTGM4, ZDHHC3
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 ID32461652
Accession Number(s)nssv15879997
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001014


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