A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16936253



Internal ID24896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81546443..81550494hg38UCSC Ensembl
chr3:81595594..81599645hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg384052
hg194052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442344
Supporting Variants
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16936253
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0128


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