A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv906887



Internal ID15854157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39050710..39399247hg38UCSC Ensembl
Innerchr2:39277851..39626388hg19UCSC Ensembl
Innerchr2:39131355..39479892hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38348538
hg19348538
hg18348538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581494
Supporting Variants
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)nssv906887
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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