A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911649



Internal ID8534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43173674..43191063hg38UCSC Ensembl
chr2:43400813..43418202hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3817390
hg1917390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438896
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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