A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1453610



Internal ID16104214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62217320..62410910hg38UCSC Ensembl
Outerchr17:60294681..60488271hg19UCSC Ensembl
Outerchr17:57649463..57842003hg18UCSC Ensembl
Outerchr17:57649463..57842003hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38193591
hg19193591
hg18192541
hg17192541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv833508
Supporting Variants
Samples
Known GenesEFCAB3, TBC1D3P2
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)nssv1453610
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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