A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833774



Internal ID16110957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18102951..18184519hg38UCSC Ensembl
Outerchr19:18213761..18295329hg19UCSC Ensembl
Outerchr19:18074761..18156329hg18UCSC Ensembl
Outerchr19:18074761..18156329hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3881569
hg1981569
hg1881569
hg1781569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454586, nssv1454589, nssv1454585, nssv1454593, nssv1454590, nssv1454584, nssv1454588, nssv1454587, nssv1454591, nssv1454592
Samples
Known GenesIFI30, MAST3, PIK3R2
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)nsv833774
Frequency
Sample Size95
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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