A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971782



Internal ID19697036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184187632..184244741hg38UCSC Ensembl
chr3:183905420..183962529hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3857110
hg1957110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4095842
Supporting Variants
Samples
Known GenesABCF3, ALG3, MIR1224, VWA5B2
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)nssv15971782
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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