A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612304



Internal ID16399713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130839180..130840287hg38UCSC Ensembl
Innerchr8:131851426..131852533hg19UCSC Ensembl
Innerchr8:131920608..131921715hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381108
hg191108
hg181108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12336n54
Supporting Variantsnssv1121498
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612304
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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