A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039216



Internal ID18781747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120983898..121100688hg38UCSC Ensembl
Innerchr12:121421701..121538491hg19UCSC Ensembl
Innerchr12:119906084..120022874hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38116791
hg19116791
hg18116791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712608
Samples
Known GenesC12orf43, HNF1A, OASL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039216
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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