A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734966



Internal ID158632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113760464..113762334hg38UCSC Ensembl
chr3:113479311..113481181hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381871
hg191871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435031
Supporting Variants
Samples
Known GenesATP6V1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734966
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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