A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581243



Internal ID16021966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26989775..27128411hg38UCSC Ensembl
Innerchr2:27212643..27351279hg19UCSC Ensembl
Innerchr2:27066147..27204783hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38138637
hg19138637
hg18138637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6744n54
Supporting Variantsnssv1150193
SamplesHGDP00859
Known GenesABHD1, AGBL5, CGREF1, EMILIN1, KHK, MAPRE3, OST4, TMEM214
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581243
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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