A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611394



Internal ID16052117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55794435..55963660hg38UCSC Ensembl
Innerchr8:56706994..56876219hg19UCSC Ensembl
Innerchr8:56869548..57038773hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38169226
hg19169226
hg18169226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12173n54
Supporting Variantsnssv1115581
Samples
Known GenesLYN, TGS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611394
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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