A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15865600



Internal ID19590854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47402393..47422404hg38UCSC Ensembl
chr2:47629532..47649543hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3820012
hg1920012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4069776
Supporting Variants
Samples
Known GenesMSH2
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)nssv15865600
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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