A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3518295



Internal ID18469890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4286176..4299636hg38UCSC Ensembl
Innerchr12:4395342..4408802hg19UCSC Ensembl
Innerchr12:4265603..4279063hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3813461
hg1913461
hg1813461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035984
Supporting Variants
Samples
Known GenesCCND2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3518295
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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