A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911048



Internal ID8136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28970732..30284221hg38UCSC Ensembl
chr2:29193598..30507087hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381313490
hg191313490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453697
Supporting Variants
Samples
Known GenesALK, C2orf71, CLIP4, FAM179A, LBH, YPEL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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