A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1444016



Internal ID16094620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145576238..145749385hg38UCSC Ensembl
Outerchr4:146497390..146670537hg19UCSC Ensembl
Outerchr4:146716840..146889987hg18UCSC Ensembl
Outerchr4:146854995..147028142hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38173148
hg19173148
hg18173148
hg17173148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830105
Supporting Variants
Samples
Known GenesC4orf51, MMAA
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)nssv1444016
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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