A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053925



Internal ID19143144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11340230..11411667hg38UCSC Ensembl
Innerchr12:11493164..11564601hg19UCSC Ensembl
Innerchr12:11384431..11455868hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3871438
hg1971438
hg1871438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1380n100
Supporting Variantsnssv3521108
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053925
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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