A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831353



Internal ID16108536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71836557..72032198hg38UCSC Ensembl
Outerchr8:72748792..72944433hg19UCSC Ensembl
Outerchr8:72911346..73106987hg18UCSC Ensembl
Outerchr8:72911346..73106987hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38195642
hg19195642
hg18195642
hg17195642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447206
Samples
Known GenesLOC100132891, MSC, RNU6-83P, TRPA1
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)nsv831353
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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