A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968403



Internal ID46252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76692388..76692467hg38UCSC Ensembl
chr5:75988213..75988292hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455116
Supporting Variants
Samples
Known GenesIQGAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968403
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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