A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831413



Internal ID16108596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:103072913..103257561hg38UCSC Ensembl
Outerchr8:104085141..104269789hg19UCSC Ensembl
Outerchr8:104154317..104338965hg18UCSC Ensembl
Outerchr8:104154317..104338965hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38184649
hg19184649
hg18184649
hg17184649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447412, nssv1447413
Samples
Known GenesATP6V1C1, BAALC, C8orf56, LOC100499183, MIR3151
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)nsv831413
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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