A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470933



Internal ID15210806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44864035hg38UCSC Ensembl
Innerchr10:45210690..45359483hg19UCSC Ensembl
Innerchr10:44530696..44679489hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38148794
hg19148794
hg18148794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544848, nssv544849, nssv544847, nssv544851, nssv544852, nssv544850
SamplesHGDP01255, HGDP01261, HGDP01253, HGDP01264, HGDP01282, HGDP01362
Known GenesTMEM72-AS1
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)nsv470933
Frequency
Sample Size443
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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