A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832483



Internal ID6158207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:91234574..91441428hg19UCSC Ensembl
Outerchr12:89758705..89965559hg18UCSC Ensembl
Outerchr12:89737042..89943896hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1449956
Samples
Known GenesC12orf12, C12orf37, EPYC
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv832483
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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