A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829923



Internal ID16107106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47434122..47676426hg38UCSC Ensembl
Outerchr4:47436139..47678443hg19UCSC Ensembl
Outerchr4:47130896..47373200hg18UCSC Ensembl
Outerchr4:47277067..47519371hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38242305
hg19242305
hg18242305
hg17242305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443610, nssv1443613, nssv1443609, nssv1443611, nssv1443614, nssv1443608, nssv1443612
Samples
Known GenesATP10D, COMMD8, CORIN, MIR8053
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)nsv829923
Frequency
Sample Size95
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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