A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524604



Internal ID18476199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68827850..68842325hg38UCSC Ensembl
Innerchr12:69221630..69236105hg19UCSC Ensembl
Innerchr12:67507897..67522372hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3814476
hg1914476
hg1814476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1054112
Supporting Variants
Samples
Known GenesMDM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524604
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer