A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962229



Internal ID19687483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10559934..10568097hg38UCSC Ensembl
chr19:10670610..10678773hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388164
hg198164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4268250
Supporting Variants
Samples
Known GenesCDKN2D, KRI1
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)nssv15962229
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000922


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