A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612299



Internal ID16399708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130839022..130840396hg38UCSC Ensembl
Innerchr8:131851268..131852642hg19UCSC Ensembl
Innerchr8:131920450..131921824hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381375
hg191375
hg181375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12333n54
Supporting Variantsnssv1121336, nssv1121337, nssv1121338, nssv1121339
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612299
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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