A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612960



Internal ID16053683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144502322..144516381hg38UCSC Ensembl
Innerchr8:145727705..145741765hg19UCSC Ensembl
Innerchr8:145698513..145712573hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3814060
hg1914061
hg1814061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12443n54
Supporting Variantsnssv1125822, nssv1125823
Samples
Known GenesGPT, MFSD3, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612960
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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