A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15879189



Internal ID19604443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38575128..38575187hg38UCSC Ensembl
chr3:38616619..38616678hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4084221
Supporting Variants
Samples
Known GenesSCN5A
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)nssv15879189
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005955


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