A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833187



Internal ID16110370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30051939..30173160hg38UCSC Ensembl
Outerchr16:30063260..30184481hg19UCSC Ensembl
Outerchr16:29970761..30091982hg18UCSC Ensembl
Outerchr16:29970761..30091982hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38121222
hg19121222
hg18121222
hg17121222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1452540, nssv1452542, nssv1452541, nssv1452538, nssv1452539
Samples
Known GenesALDOA, GDPD3, MAPK3, PPP4C, TBX6, YPEL3
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)nsv833187
Frequency
Sample Size95
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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