A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471181



Internal ID8524722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19729797..19815256hg38UCSC Ensembl
Innerchr22:19717320..19802779hg19UCSC Ensembl
Innerchr22:18097320..18182779hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3885460
hg1985460
hg1885460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545491, nssv545487, nssv545490, nssv545489
SamplesHGDP00789, HGDP00550, HGDP00825, HGDP00543
Known GenesGNB1L, TBX1
MethodSNP array
AnalysisWe used the previously validated default quality control criteria, excluding samples with a log R ratio standard deviation of >0.28, a median B allele frequency of >0.55 or <0.45, or a B allele frequency drift of >0.002 (for more details see Wang et al. 2007). As the PennCNV algorithm is more sensitive and specific to CNVs covering greater numbers of SNPs in the HumanHap550 array, use of a minimum number of SNPs in CNV detection increases the reliability of CNV calls (with a consequent reduction in calls per individual). We set 10 SNPs as the minimum detection threshold in the algorithm.
PlatformIllumina HumanHap550 Genotyping BeadChip 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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