A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558048



Internal ID15998771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31260391hg38UCSC Ensembl
Innerchr12:31266287..31413325hg19UCSC Ensembl
Innerchr12:31157554..31304592hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38147039
hg19147039
hg18147039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv1176282
SamplesHGDP01155
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558048
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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