A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832176



Internal ID16109359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61049440..61234470hg38UCSC Ensembl
Outerchr11:60816912..61001942hg19UCSC Ensembl
Outerchr11:60573488..60758518hg18UCSC Ensembl
Outerchr11:60573488..60758518hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38185031
hg19185031
hg18185031
hg17185031
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449244, nssv1449243, nssv1449245, nssv1449241, nssv1449253, nssv1449246, nssv1449254, nssv1449256, nssv1449252, nssv1449258, nssv1449240, nssv1449248, nssv1449247, nssv1449249, nssv1449242, nssv1449251, nssv1449255, nssv1449257
Samples
Known GenesCD5, PGA3, PGA4, VPS37C
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)nsv832176
Frequency
Sample Size95
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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