A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471077



Internal ID15210950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6592195..6639091hg38UCSC Ensembl
Innerchr16:6642196..6689092hg19UCSC Ensembl
Innerchr16:6582197..6629093hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3846897
hg1946897
hg1846897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545267, nssv545263, nssv545264, nssv545266, nssv545262
SamplesHGDP00548, HGDP00549, HGDP00787, HGDP00550, HGDP00978
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
CommentsSingle-copy duplication
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv471077
Frequency
Sample Size443
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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