A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470735



Internal ID15210609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145809105hg38UCSC Ensembl
Innerchr1:145625979..145747463hg19UCSC Ensembl
Innerchr1:144337336..144458820hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38121504
hg19121485
hg18121485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547765, nssv547766
SamplesHGDP01406, HGDP00449
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
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)nsv470735
Frequency
Sample Size443
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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