A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612294



Internal ID16053017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130632833..130911131hg38UCSC Ensembl
Innerchr8:131645079..131923377hg19UCSC Ensembl
Innerchr8:131714261..131992559hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38278299
hg19278299
hg18278299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121330
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612294
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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