A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611392



Internal ID16052115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55741553..55878302hg38UCSC Ensembl
Innerchr8:56654112..56790861hg19UCSC Ensembl
Innerchr8:56816666..56953415hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38136750
hg19136750
hg18136750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1115579
Samples
Known GenesTGS1, TMEM68
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611392
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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