A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789646



Internal ID15736916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24738241..25051419hg38UCSC Ensembl
Innerchr12:24891175..25204353hg19UCSC Ensembl
Innerchr12:24782442..25095620hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38313179
hg19313179
hg18313179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557776
Supporting Variants
Samples
Known GenesBCAT1, C12orf77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789646
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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