A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470586



Internal ID8524127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42362183..42459270hg38UCSC Ensembl
Innerchr17:40514201..40611288hg19UCSC Ensembl
Innerchr17:37767727..37864814hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3897088
hg1997088
hg1897088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547473
SamplesHGDP00641
Known GenesATP6V0A1, PTRF, STAT3
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)nsv470586
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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