A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558047



Internal ID15998770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31259735hg38UCSC Ensembl
Innerchr12:31266287..31412669hg19UCSC Ensembl
Innerchr12:31157554..31303936hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38146383
hg19146383
hg18146383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv1176281, nssv791576
SamplesHGDP01300
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558047
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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