A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611145



Internal ID16051868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43171867..43936548hg38UCSC Ensembl
Innerchr8:43027010..43791691hg19UCSC Ensembl
Innerchr8:43146167..43910848hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38764682
hg19764682
hg18764682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12123n54
Supporting Variantsnssv1113877
Samples
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611145
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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