A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470924



Internal ID8524466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:16864509..16951578hg38UCSC Ensembl
Innerchr10:16906508..16993577hg19UCSC Ensembl
Innerchr10:16946514..17033583hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3887070
hg1987070
hg1887070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544830
SamplesHGDP01370
Known GenesCUBN
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)nsv470924
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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