A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559230



Internal ID16346639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69896159..69896752hg38UCSC Ensembl
Innerchr12:70289939..70290532hg19UCSC Ensembl
Innerchr12:68576206..68576799hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2685n54
Supporting Variantsnssv797693
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559230
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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