A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471123



Internal ID6060087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23782577..23819181hg19UCSC Ensembl
Innerchr13:22680577..22717181hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv545385
SamplesHGDP00553
Known GenesSGCG
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
Comments
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv471123
Frequency
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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