A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470651



Internal ID15210524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67266144..67646576hg38UCSC Ensembl
Innerchr14:67732861..68113293hg19UCSC Ensembl
Innerchr14:66802614..67183046hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38380433
hg19380433
hg18380433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547584
SamplesHGDP00650
Known GenesARG2, ATP6V1D, EIF2S1, MPP5, PIGH, PLEK2, PLEKHH1, TMEM229B
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)nsv470651
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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