A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470673



Internal ID6060027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104162263..104219949hg19UCSC Ensembl
Innerchr14:103232016..103289702hg18UCSC Ensembl
Cytoband14q32.33
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 Variantsnssv547617
SamplesHGDP00290
Known GenesKLC1, PPP1R13B, XRCC3, ZFYVE21
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)nsv470673
Frequency
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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