A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933900



Internal ID23336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63903033..63903165hg38UCSC Ensembl
chr3:63888709..63888841hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441224
Supporting Variants
Samples
Known GenesATXN7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933900
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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