A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964570



Internal ID19689826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215591752..215591866hg38UCSC Ensembl
chr1:215765094..215765208hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4066846
Supporting Variants
Samples
Known GenesKCTD3
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)nssv15964570
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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