A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv546561

Internal ID15207367
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49618821..49856789hg38UCSC Ensembl
Innerchr19:50122078..50360046hg19UCSC Ensembl
Innerchr19:54813890..55051858hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv470150
Supporting Variants
Known GenesADM5, AP2A1, BCL2L12, CPT1C, FUZ, IRF3, MED25, MIR4749, MIR5088, MIR6799, MIR6800, PRMT1, PRR12, PTOV1, PTOV1-AS1, RRAS, SCAF1, TSKS
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
Pubmed ID18288195
Accession Number(s)nssv546561
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0

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