A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960907



Internal ID20032847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:21380369..21760005hg38UCSC Ensembl
chr19:21563171..21942807hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38379637
hg19379637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4263048
Supporting Variants
Samples
Known GenesLINC00664, LOC641367, ZNF100, ZNF429, ZNF493, ZNF738
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 ID32461652
Accession Number(s)nssv15960907
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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