A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581661



Internal ID16022384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43762402..44145770hg38UCSC Ensembl
Innerchr2:43989541..44372909hg19UCSC Ensembl
Innerchr2:43843045..44226413hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38383369
hg19383369
hg18383369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150425
SamplesHGDP01104
Known GenesABCG5, ABCG8, DYNC2LI1, LRPPRC, PLEKHH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581661
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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