A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470610



Internal ID8524151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78973800..79091723hg38UCSC Ensembl
Innerchr17:76969882..77087805hg19UCSC Ensembl
Innerchr17:74481477..74599400hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38117924
hg19117924
hg18117924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547515, nssv547514, nssv547511, nssv547510, nssv547513
SamplesHGDP00288, HGDP00298, HGDP00290, HGDP00825, HGDP00661
Known GenesC1QTNF1, C1QTNF1-AS1, CANT1, ENGASE, LGALS3BP, RBFOX3
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)nsv470610
Frequency
Sample Size443
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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