A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560299



Internal ID16347708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115209706..115234477hg38UCSC Ensembl
Innerchr12:115647511..115672282hg19UCSC Ensembl
Innerchr12:114131894..114156665hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3824772
hg1924772
hg1824772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175895
Samples1780862015_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560299
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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