A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15836442



Internal ID19908528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83009040..83081060hg38UCSC Ensembl
chr17:80966916..81038936hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3872021
hg1972021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4269902
Supporting Variants
Samples
Known GenesB3GNTL1, METRNL
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)nssv15836442
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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