A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612908



Internal ID16053631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143917935..144120626hg38UCSC Ensembl
Innerchr8:144992103..145175529hg19UCSC Ensembl
Innerchr8:145064091..145247517hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38202692
hg19183427
hg18183427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12433n54
Supporting Variantsnssv1125753, nssv1125751, nssv1125756, nssv1125750, nssv1125761, nssv1125752, nssv1125757, nssv1125763, nssv1125758, nssv1125755, nssv1125762, nssv1125749, nssv1125760, nssv1125754, nssv1125759
Samples
Known GenesCYC1, EXOSC4, GPAA1, GRINA, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, OPLAH, PARP10, PLEC, SHARPIN, SPATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612908
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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