A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831321



Internal ID16455190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57174326..57325185hg38UCSC Ensembl
Outerchr8:58086885..58237744hg19UCSC Ensembl
Outerchr8:58249439..58400298hg18UCSC Ensembl
Outerchr8:58249439..58400298hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38150860
hg19150860
hg18150860
hg17150860
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447098, nssv1447095, nssv1447108, nssv1447099, nssv1447101, nssv1447097, nssv1447092, nssv1447100, nssv1447088, nssv1447104, nssv1447090, nssv1447094, nssv1447091, nssv1447084, nssv1447102, nssv1447087, nssv1447086, nssv1447106, nssv1447089, nssv1447105, nssv1447093, nssv1447103
Samples
Known GenesLINC00588, LOC100507651, LOC286177
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)nsv831321
Frequency
Sample Size95
Observed Gain16
Observed Loss6
Observed Complex0
Frequencyn/a


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