A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833187



Internal ID19558587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42816137..42820311hg38UCSC Ensembl
chr17:40968155..40972329hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384175
hg194175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4256165
Supporting Variants
Samples
Known GenesBECN1
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)nssv15833187
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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