A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974120



Internal ID19699374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48543781..49081983hg38UCSC Ensembl
chr4:48545798..49084000hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38538203
hg19538203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521298
Supporting Variants
Samples
Known GenesCWH43, FRYL, OCIAD1, OCIAD2
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)nssv15974120
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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