A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609817



Internal ID16397226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4194937..4277352hg38UCSC Ensembl
Innerchr8:4052459..4134874hg19UCSC Ensembl
Innerchr8:4039867..4122282hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3882416
hg1982416
hg1882416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1104244
Samples
Known GenesCSMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609817
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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