A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557747



Internal ID16345156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21662595..21663513hg38UCSC Ensembl
Innerchr12:21815529..21816447hg19UCSC Ensembl
Innerchr12:21706796..21707714hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38919
hg19919
hg18919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2407n54
Supporting Variantsnssv789563
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557747
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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