A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557123



Internal ID15997846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4327466..4627403hg38UCSC Ensembl
Innerchr12:4436632..4736569hg19UCSC Ensembl
Innerchr12:4306893..4606830hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38299938
hg19299938
hg18299938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175418
SamplesHGDP00468
Known GenesAKAP3, C12orf4, C12orf5, DYRK4, FGF23, FGF6, RAD51AP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557123
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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