A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691187



Internal ID114853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93352000..93492979hg38UCSC Ensembl
chr13:94004253..94145232hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38140980
hg19140980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512291
Supporting Variants
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691187
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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