A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125741



Internal ID15632241
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 StatusS
Merged Variantsnsv612900
Supporting Variants
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)nssv1125741
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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