A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834307



Internal ID16111490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:96655710..96813529hg38UCSC Ensembl
Outerchr2:97321447..97479266hg19UCSC Ensembl
Outerchr2:96685174..96842993hg18UCSC Ensembl
Outerchr2:96743321..96901140hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38157820
hg19157820
hg18157820
hg17157820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442111
Samples
Known GenesCNNM4, FER1L5, LMAN2L, MIR3127
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)nsv834307
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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