A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15831633



Internal ID19903719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4328899..4330623hg38UCSC Ensembl
chr17:4232194..4233918hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381725
hg191725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4242938
Supporting Variants
Samples
Known GenesUBE2G1
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)nssv15831633
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001152


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