A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611393



Internal ID16052116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55763923..55993509hg38UCSC Ensembl
Innerchr8:56676482..56906068hg19UCSC Ensembl
Innerchr8:56839036..57068622hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38229587
hg19229587
hg18229587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1115580
Samples
Known GenesLYN, TGS1, TMEM68
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611393
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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