A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612900



Internal ID16053623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143902404..144097007hg38UCSC Ensembl
Innerchr8:144976572..145151910hg19UCSC Ensembl
Innerchr8:145048560..145223898hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38194604
hg19175339
hg18175339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12433n54
Supporting Variantsnssv1125741
Samples
Known GenesCYC1, EXOSC4, GPAA1, GRINA, MIR661, MIR6846, MIR6847, OPLAH, PARP10, PLEC, SPATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612900
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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