A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv545519



Internal ID15209298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25476625..25508290hg38UCSC Ensembl
Innerchr22:25872592..25904257hg19UCSC Ensembl
Innerchr22:24202592..24234257hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3831666
hg1931666
hg1831666
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471189
Supporting Variants
SamplesHGDP01255
Known Genes
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
CommentsDouble-copy duplication
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nssv545519
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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