A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1442487



Internal ID16093091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199852719..200052794hg38UCSC Ensembl
Outerchr2:200717442..200917517hg19UCSC Ensembl
Outerchr2:200425687..200625762hg18UCSC Ensembl
Outerchr2:200542948..200743023hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38200076
hg19200076
hg18200076
hg17200076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv834510
Supporting Variants
Samples
Known GenesC2orf47, C2orf69, TYW5
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)nssv1442487
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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