A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470279



Internal ID6060473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25384658..25399121hg19UCSC Ensembl
Innerchr12:25275925..25290388hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv546910
SamplesHGDP00942
Known GenesKRAS
Method
AnalysisOverlapping CNVs were merged. The positions are based on the farthest SNPs observed anomg any individuals with the CNV.
PlatformIllumina HumanHap550 Genotyping BeadChip v1 + v3
CommentsSingle-copy duplication
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv470279
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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