A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911608



Internal ID8508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42796928..42805909hg38UCSC Ensembl
chr2:43024068..43033049hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388982
hg198982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439677
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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