A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524866



Internal ID18476461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101860641..102015846hg38UCSC Ensembl
Innerchr12:102254419..102409624hg19UCSC Ensembl
Innerchr12:100778550..100933755hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38155206
hg19155206
hg18155206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053046
Supporting Variants
Samples
Known GenesCCDC53, DRAM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524866
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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