A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833117



Internal ID16110300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1217597..1318867hg38UCSC Ensembl
Outerchr16:1267597..1368868hg19UCSC Ensembl
Outerchr16:1207598..1308869hg18UCSC Ensembl
Outerchr16:1207598..1308869hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38101271
hg19101272
hg18101272
hg17101272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1452163, nssv1452173, nssv1452160, nssv1452157, nssv1452166, nssv1452172, nssv1452171, nssv1452158, nssv1452154, nssv1452162, nssv1452159, nssv1452156, nssv1452165, nssv1452164, nssv1452155, nssv1452169, nssv1452161, nssv1452168, nssv1452167, nssv1452170
Samples
Known GenesCACNA1H, TPSAB1, TPSB2, TPSD1, TPSG1, UBE2I
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)nsv833117
Frequency
Sample Size95
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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