A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933901



Internal ID23337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63983298..63983349hg38UCSC Ensembl
chr3:63968974..63969025hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413323
Supporting Variants
Samples
Known GenesATXN7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933901
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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