A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv545517

Internal ID15206755
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25439547hg38UCSC Ensembl
Innerchr22:25664408..25835514hg19UCSC Ensembl
Innerchr22:23994408..24165514hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471189
Supporting Variants
Known GenesIGLL3P, LRP5L
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
Pubmed ID18288195
Accession Number(s)nssv545517
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0

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