A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470584



Internal ID15210457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21638256..22743029hg38UCSC Ensembl
Innerchr17:21539613..22242356hg19UCSC Ensembl
Innerchr17:21480206..22166483hg18UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg381104774
hg19702744
hg18686278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547471, nssv547466, nssv547469, nssv547470
SamplesHGDP00298, HGDP00302, HGDP00290
Known GenesFAM27L, FLJ36000, MTRNR2L1
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)nsv470584
Frequency
Sample Size443
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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