A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470811



Internal ID15210685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33655156..33679874hg38UCSC Ensembl
Innerchr6:33622933..33647651hg19UCSC Ensembl
Innerchr6:33730911..33755629hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3824719
hg1924719
hg1824719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544481, nssv544480
SamplesHGDP00288, HGDP00546
Known GenesITPR3
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)nsv470811
Frequency
Sample Size443
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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