A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958014



Internal ID19683268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67774774..67873410hg38UCSC Ensembl
chr17:65770890..65869526hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3898637
hg1998637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4261229
Supporting Variants
Samples
Known GenesBPTF
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)nssv15958014
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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