A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037113



Internal ID19126332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11359546..11436563hg38UCSC Ensembl
Innerchr12:11512480..11589497hg19UCSC Ensembl
Innerchr12:11403747..11480764hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3877018
hg1977018
hg1877018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3504703
Samples
Known GenesPRB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037113
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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