A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483114



Internal ID15235588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112066462..112243129hg38UCSC Ensembl
Innerchr12:112504266..112680933hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38176668
hg19176668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996420, nssv2996440
Samples
Known GenesHECTD4, NAA25, TRAFD1
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483114
Frequency
Sample Size39
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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