A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612951



Internal ID16053674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144479830..144677692hg38UCSC Ensembl
Innerchr8:145705213..145903077hg19UCSC Ensembl
Innerchr8:145676021..145873885hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38197863
hg19197865
hg18197865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125810
Samples
Known GenesARHGAP39, C8orf82, GPT, LRRC14, LRRC24, MFSD3, PPP1R16A, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612951
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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