A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1453242



Internal ID16103846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29465646..29655807hg38UCSC Ensembl
Outerchr17:27792664..27982825hg19UCSC Ensembl
Outerchr17:24816790..25006951hg18UCSC Ensembl
Outerchr17:24816790..25006951hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38190162
hg19190162
hg18190162
hg17190162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv833409
Supporting Variants
Samples
Known GenesABHD15, ANKRD13B, CORO6, GIT1, SSH2, TAOK1, TP53I13
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)nssv1453242
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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