A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830082



Internal ID16453951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:138243527..138399911hg38UCSC Ensembl
Outerchr4:139164681..139321065hg19UCSC Ensembl
Outerchr4:139384131..139540515hg18UCSC Ensembl
Outerchr4:139522286..139678670hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38156385
hg19156385
hg18156385
hg17156385
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443983, nssv1443986, nssv1443984
Samples
Known GenesLINC00499
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)nsv830082
Frequency
Sample Size95
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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