A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911986



Internal ID8746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43858183..43860077hg38UCSC Ensembl
chr2:44085322..44087216hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450345
Supporting Variants
Samples
Known GenesABCG8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911986
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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