A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926630



Internal ID18482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160174783..160174834hg38UCSC Ensembl
chr2:161031294..161031345hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396461
Supporting Variants
Samples
Known GenesITGB6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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