A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612316



Internal ID16399725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130839602..130840396hg38UCSC Ensembl
Innerchr8:131851848..131852642hg19UCSC Ensembl
Innerchr8:131921030..131921824hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38795
hg19795
hg18795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12337n54
Supporting Variantsnssv1121513
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612316
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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