A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512291



Internal ID288849
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 StatusM
Merged Variants
Supporting Variantsnssv17691187
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512291
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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