A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833715



Internal ID16110898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3786758..3977144hg38UCSC Ensembl
Outerchr19:3786756..3977142hg19UCSC Ensembl
Outerchr19:3737756..3928142hg18UCSC Ensembl
Outerchr19:3737756..3928142hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38190387
hg19190387
hg18190387
hg17190387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454261, nssv1454262
Samples
Known GenesATCAY, DAPK3, EEF2, MATK, MIR637, NMRK2, ZFR2
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)nsv833715
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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