A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470262



Internal ID8523803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5413390..6134450hg38UCSC Ensembl
Innerchr12:5522556..6243616hg19UCSC Ensembl
Innerchr12:5392817..6113877hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38721061
hg19721061
hg18721061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv546873
SamplesHGDP01276
Known GenesANO2, NTF3, VWF
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)nsv470262
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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