A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560116



Internal ID16347525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109115044..109225776hg38UCSC Ensembl
Innerchr12:109552849..109663581hg19UCSC Ensembl
Innerchr12:108037232..108147964hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38110733
hg19110733
hg18110733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2855n54
Supporting Variantsnssv1175889
SamplesNINDS_201
Known GenesACACB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560116
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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