A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471181



Internal ID6059981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19717320..19802779hg19UCSC Ensembl
Innerchr22:18097320..18182779hg18UCSC Ensembl
Cytoband22q11.21
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 Variantsnssv545491, nssv545487, nssv545490, nssv545489
SamplesHGDP00789, HGDP00550, HGDP00825, HGDP00543
Known GenesGNB1L, TBX1
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)nsv471181
Frequency
Sample Size443
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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