A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581495



Internal ID16368904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39054938..39248064hg38UCSC Ensembl
Innerchr2:39282079..39475205hg19UCSC Ensembl
Innerchr2:39135583..39328709hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38193127
hg19193127
hg18193127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151042
SamplesHGDP01208
Known GenesCDKL4, SOS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581495
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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