A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609533



Internal ID16396942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1798784..1940281hg38UCSC Ensembl
Innerchr8:1746950..1888447hg19UCSC Ensembl
Innerchr8:1734357..1875854hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38141498
hg19141498
hg18141498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155948
SamplesHGDP01222
Known GenesARHGEF10, MIR596
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609533
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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