A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15867192



Internal ID19939132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37321589..37367907hg38UCSC Ensembl
chr2:37548732..37595050hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3846319
hg1946319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4056148
Supporting Variants
Samples
Known GenesQPCT
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)nssv15867192
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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