A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966471



Internal ID19691725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36291700..36444821hg38UCSC Ensembl
chr2:36518843..36671964hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38153122
hg19153122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4059833
Supporting Variants
Samples
Known GenesCRIM1, LOC100288911
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)nssv15966471
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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