A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053046



Internal ID18795577
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 StatusM
Merged Variants
Supporting Variantsnssv3524866
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)nsv1053046
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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