A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964214



Internal ID19689469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94335485..94656593hg38UCSC Ensembl
chr1:94801041..95122149hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38321109
hg19321109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4070871
Supporting Variants
Samples
Known GenesABCD3, F3
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)nssv15964214
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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