A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046510



Internal ID18789041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132849927..132947727hg38UCSC Ensembl
Innerchr12:133426513..133524313hg19UCSC Ensembl
Innerchr12:131936586..132034386hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3897801
hg1997801
hg1897801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1589n100
Supporting Variantsnssv3712687
Samples
Known GenesCHFR, ZNF605
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046510
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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