A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471113



Internal ID6060188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88717073..88830836hg19UCSC Ensembl
Innerchr16:87244574..87358337hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv545362, nssv545359, nssv545363, nssv545361, nssv545360
SamplesHGDP00298, HGDP00789, HGDP00302, HGDP00883, HGDP01036
Known GenesCTU2, CYBA, MGC23284, MIR4722, MVD, PIEZO1, RNF166, SNAI3
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)nsv471113
Frequency
Sample Size443
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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