A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612741



Internal ID16400150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143211426..143213308hg38UCSC Ensembl
Innerchr8:144292834..144295183hg19UCSC Ensembl
Innerchr8:144364209..144366558hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381883
hg192350
hg182350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12406n54
Supporting Variantsnssv1125065, nssv1125066
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612741
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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