A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972555



Internal ID19697809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63809595..63842615hg38UCSC Ensembl
chr3:63795271..63828291hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3833021
hg1933021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088304
Supporting Variants
Samples
Known GenesC3orf49, THOC7
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)nssv15972555
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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