A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969815



Internal ID19695069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167851038..167922135hg38UCSC Ensembl
chr3:167568826..167639923hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3871098
hg1971098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4107830
Supporting Variants
Samples
Known GenesLOC646168
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)nssv15969815
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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