A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15870056



Internal ID19941996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137015982..137148853hg38UCSC Ensembl
chr2:137773552..137906423hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38132872
hg19132872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088225
Supporting Variants
Samples
Known GenesTHSD7B
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)nssv15870056
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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