A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470381



Internal ID8523922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100642568..100834358hg38UCSC Ensembl
Innerchr7:100240191..100431980hg19UCSC Ensembl
Innerchr7:100078127..100269916hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38191791
hg19191790
hg18191790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv546098
SamplesHGDP00546
Known GenesACTL6B, EPHB4, EPO, GIGYF1, GNB2, POP7, ZAN
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)nsv470381
Frequency
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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