A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471187



Internal ID15211060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23649232hg38UCSC Ensembl
Innerchr22:23921427..23991419hg19UCSC Ensembl
Innerchr22:22251427..22321419hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3869993
hg1969993
hg1869993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545512, nssv545513, nssv545514
SamplesHGDP01089, HGDP01091, HGDP00473
Known GenesC22orf43, GUSBP11, IGLL1
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
CommentsSingle-copy duplication
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv471187
Frequency
Sample Size443
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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