A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612978



Internal ID16400387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144999726..145067700hg38UCSC Ensembl
Innerchr8:146225112..146293086hg19UCSC Ensembl
Innerchr8:146195916..146263890hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3867975
hg1967975
hg1867975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156393
SamplesHGDP00475
Known GenesC8orf33, ZNF252P, ZNF252P-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612978
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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