A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv907898



Internal ID16201854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43552526..43643351hg38UCSC Ensembl
Innerchr2:43779665..43870490hg19UCSC Ensembl
Innerchr2:43633169..43723994hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3890826
hg1990826
hg1890826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581660
Supporting Variants
Samples
Known GenesPLEKHH2, THADA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv907898
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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