A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609751



Internal ID16050474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829877..6093123hg38UCSC Ensembl
Innerchr8:3687399..5950645hg19UCSC Ensembl
Innerchr8:3674807..5938053hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382263247
hg192263247
hg182263247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156118
SamplesHGDP00747
Known GenesCSMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609751
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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