A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557704



Internal ID16345113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20689107..20741046hg38UCSC Ensembl
Innerchr12:20842041..20893980hg19UCSC Ensembl
Innerchr12:20733308..20785247hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3851940
hg1951940
hg1851940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789513
Samples
Known GenesSLCO1C1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557704
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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