A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559259



Internal ID16346668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70463310..70508832hg38UCSC Ensembl
Innerchr12:70857090..70902612hg19UCSC Ensembl
Innerchr12:69143357..69188879hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3845523
hg1945523
hg1845523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176421
SamplesNINDS_83
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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