A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559234



Internal ID16346643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70117766..70154455hg38UCSC Ensembl
Innerchr12:70511546..70548235hg19UCSC Ensembl
Innerchr12:68797813..68834502hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3836690
hg1936690
hg1836690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv797697
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559234
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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