A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830026



Internal ID16107209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63476991..63495016hg38UCSC Ensembl
Outerchr1:63942662..63960687hg19UCSC Ensembl
Outerchr1:63715250..63733275hg18UCSC Ensembl
Outerchr1:63654683..63672708hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3818026
hg1918026
hg1818026
hg1718026
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446917, nssv1446928, nssv1446939, nssv1446906
Samples
Known GenesITGB3BP
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830026
Frequency
Sample Size95
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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