A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557479



Internal ID15998202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10492064..10577222hg38UCSC Ensembl
Innerchr12:10644663..10729821hg19UCSC Ensembl
Innerchr12:10535930..10621088hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3885159
hg1985159
hg1885159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv788053
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557479
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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