A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713480



Internal ID137146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47261439..47261490hg38UCSC Ensembl
chr17:45338805..45338856hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430610
Supporting Variants
Samples
Known GenesITGB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003278


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