A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1444884



Internal ID16095488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96709464..96852114hg38UCSC Ensembl
Outerchr5:96045168..96187817hg19UCSC Ensembl
Outerchr5:96070924..96213573hg18UCSC Ensembl
Outerchr5:96070924..96213573hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38142651
hg19142650
hg18142650
hg17142650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830411
Supporting Variants
Samples
Known GenesCAST, ERAP1
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)nssv1444884
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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