A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831517



Internal ID16108700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:14512926..14738208hg38UCSC Ensembl
Outerchr9:14512924..14738206hg19UCSC Ensembl
Outerchr9:14502924..14728206hg18UCSC Ensembl
Outerchr9:14502924..14728206hg17UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg38225283
hg19225283
hg18225283
hg17225283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447570, nssv1447571, nssv1447566, nssv1447567, nssv1447568, nssv1447569, nssv1447565
Samples
Known GenesCER1, FREM1, ZDHHC21
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)nsv831517
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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