A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610294



Internal ID16397703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11960855..12040700hg38UCSC Ensembl
Innerchr8:11818364..11898209hg19UCSC Ensembl
Innerchr8:11855773..11935618hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879846
hg1979846
hg1879846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156591
SamplesHGDP01351
Known GenesDEFB134, DEFB135, DEFB136
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610294
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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