A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469957



Internal ID15209830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55592737..55679950hg38UCSC Ensembl
Innerchr11:55360213..55447426hg19UCSC Ensembl
Innerchr11:55116789..55204002hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3887214
hg1987214
hg1887214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv546114, nssv546112, nssv546111, nssv546110, nssv546113
SamplesHGDP01326, HGDP01033, HGDP01303, HGDP01304, HGDP01323
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)nsv469957
Frequency
Sample Size443
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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