A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560833



Internal ID16348242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131370928..131635702hg38UCSC Ensembl
Innerchr12:131855473..132120247hg19UCSC Ensembl
Innerchr12:130421426..130686200hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38264775
hg19264775
hg18264775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2990n54
Supporting Variantsnssv1176434
SamplesHGDP01228
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560833
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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