A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966364



Internal ID19691618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43784655..44201047hg38UCSC Ensembl
chr22:44180535..44596927hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38416393
hg19416393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4288830
Supporting Variants
Samples
Known GenesEFCAB6, PARVB, PARVG, PNPLA3, PNPLA5, SAMM50, SULT4A1
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)nssv15966364
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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