A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560569



Internal ID16001292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540458..124541609hg38UCSC Ensembl
Innerchr12:125025004..125026155hg19UCSC Ensembl
Innerchr12:123590957..123592108hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381152
hg191152
hg181152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2941n54
Supporting Variantsnssv804032, nssv804031, nssv804030
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560569
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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