A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560947



Internal ID16001670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132148365..132150007hg38UCSC Ensembl
Innerchr12:132632910..132634552hg19UCSC Ensembl
Innerchr12:131198863..131200505hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381643
hg191643
hg181643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3014n54
Supporting Variantsnssv805468
Samples
Known GenesNOC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560947
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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