A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1443804



Internal ID16094408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:84378540..84552297hg38UCSC Ensembl
Outerchr4:85299693..85473450hg19UCSC Ensembl
Outerchr4:85518717..85692474hg18UCSC Ensembl
Outerchr4:85656872..85830629hg17UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38173758
hg19173758
hg18173758
hg17173758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv829998
Supporting Variants
Samples
Known GenesNKX6-1
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)nssv1443804
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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