A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831789



Internal ID16108972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13536081..13716895hg38UCSC Ensembl
Outerchr10:13578081..13758895hg19UCSC Ensembl
Outerchr10:13618087..13798901hg18UCSC Ensembl
Outerchr10:13618087..13798901hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38180815
hg19180815
hg18180815
hg17180815
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448213, nssv1448222, nssv1448224, nssv1448217, nssv1448220, nssv1448214, nssv1448223, nssv1448215, nssv1448221, nssv1448219, nssv1448216, nssv1448225
Samples
Known GenesFRMD4A, PRPF18
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)nsv831789
Frequency
Sample Size95
Observed Gain10
Observed Loss2
Observed Complex0
Frequencyn/a


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