A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829875



Internal ID16453744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:20501272..20679333hg38UCSC Ensembl
Outerchr4:20502895..20680956hg19UCSC Ensembl
Outerchr4:20111993..20290054hg18UCSC Ensembl
Outerchr4:20179164..20357225hg17UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38178062
hg19178062
hg18178062
hg17178062
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443478, nssv1443480, nssv1443476, nssv1443457, nssv1443472, nssv1443468, nssv1443465, nssv1443479, nssv1443471, nssv1443470, nssv1443461, nssv1443455, nssv1443481, nssv1443474, nssv1443477, nssv1443475, nssv1443459, nssv1443463, nssv1443460, nssv1443469, nssv1443483, nssv1443467, nssv1443482, nssv1443466, nssv1443458, nssv1443464, nssv1443456
Samples
Known GenesMIR218-1, SLIT2
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)nsv829875
Frequency
Sample Size95
Observed Gain9
Observed Loss18
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer