A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833898



Internal ID16111081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:3147423..3309891hg38UCSC Ensembl
Outerchr20:3128069..3290538hg19UCSC Ensembl
Outerchr20:3076069..3238538hg18UCSC Ensembl
Outerchr20:3076069..3238538hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38162469
hg19162470
hg18162470
hg17162470
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454902, nssv1454901, nssv1454900
Samples
Known GenesC20orf194, DDRGK1, FASTKD5, ITPA, LZTS3, SLC4A11, UBOX5, UBOX5-AS1
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)nsv833898
Frequency
Sample Size95
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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