A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612259



Internal ID16052982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130049125..130054602hg38UCSC Ensembl
Innerchr8:131061371..131066848hg19UCSC Ensembl
Innerchr8:131130553..131136030hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385478
hg195478
hg185478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121265
Samples
Known GenesASAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612259
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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