A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039046



Internal ID18781577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116733184..116787830hg38UCSC Ensembl
Innerchr12:117170989..117225635hg19UCSC Ensembl
Innerchr12:115655372..115710018hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3854647
hg1954647
hg1854647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712606
Samples
Known GenesC12orf49, RNFT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039046
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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