A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054112



Internal ID18796643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68827850..68842325hg38UCSC Ensembl
Innerchr12:69221630..69236105hg19UCSC Ensembl
Innerchr12:67507897..67522372hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3814476
hg1914476
hg1814476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524604
Samples
Known GenesMDM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054112
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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