A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560573



Internal ID16001296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540458..124545229hg38UCSC Ensembl
Innerchr12:125025004..125029775hg19UCSC Ensembl
Innerchr12:123590957..123595728hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384772
hg194772
hg184772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv804107, nssv804105, nssv804108, nssv804106
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560573
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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