A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958361



Internal ID19683615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80049040..80129247hg38UCSC Ensembl
chr17:78022839..78103046hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3880208
hg1980208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4252493
Supporting Variants
Samples
Known GenesCCDC40, GAA
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)nssv15958361
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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