A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471076



Internal ID15210949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6089139..6663776hg38UCSC Ensembl
Innerchr16:6139140..6713777hg19UCSC Ensembl
Innerchr16:6079141..6653778hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38574638
hg19574638
hg18574638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545260, nssv545261
SamplesHGDP00655, HGDP01275
Known GenesRBFOX1
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
Comments
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv471076
Frequency
Sample Size443
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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