A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042333



Internal ID18784864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:798809..972343hg38UCSC Ensembl
Innerchr12:907975..1081509hg19UCSC Ensembl
Innerchr12:778236..951770hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38173535
hg19173535
hg18173535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3506601
Samples
Known GenesRAD52, WNK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042333
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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