A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036114



Internal ID18778645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69523935..69597895hg38UCSC Ensembl
Innerchr12:69917715..69991675hg19UCSC Ensembl
Innerchr12:68203982..68277942hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3873961
hg1973961
hg1873961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1523n100
Supporting Variantsnssv3524605
Samples
Known GenesCCT2, FRS2, MIR3913-1, MIR3913-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036114
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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