A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612319



Internal ID16399728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131416264..131552411hg38UCSC Ensembl
Innerchr8:132428511..132564658hg19UCSC Ensembl
Innerchr8:132497693..132633840hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38136148
hg19136148
hg18136148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156640
SamplesHGDP01271
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612319
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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