A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581254



Internal ID16368663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29190445..29201849hg38UCSC Ensembl
Innerchr2:29413311..29424715hg19UCSC Ensembl
Innerchr2:29266815..29278219hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3811405
hg1911405
hg1811405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150196
SamplesNINDS_74
Known GenesALK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581254
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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