A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834288



Internal ID16111471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:87747710..87975409hg38UCSC Ensembl
Outerchr2:88047229..88274928hg19UCSC Ensembl
Outerchr2:87828344..88056043hg18UCSC Ensembl
Outerchr2:87886491..88114190hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38227700
hg19227700
hg18227700
hg17227700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442026, nssv1442028, nssv1442027
Samples
Known GenesPLGLB1, PLGLB2, RGPD1, RGPD2
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)nsv834288
Frequency
Sample Size95
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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