A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581493



Internal ID16022216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39050710..39320434hg38UCSC Ensembl
Innerchr2:39277851..39547575hg19UCSC Ensembl
Innerchr2:39131355..39401079hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38269725
hg19269725
hg18269725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6792n54
Supporting Variantsnssv906885, nssv906886
Samples
Known GenesCDKL4, MAP4K3, SOS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581493
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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