A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830698



Internal ID16107881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:75259094..75405876hg38UCSC Ensembl
Outerchr6:75968810..76115592hg19UCSC Ensembl
Outerchr6:76025530..76172312hg18UCSC Ensembl
Outerchr6:76025530..76172312hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38146783
hg19146783
hg18146783
hg17146783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445455
Samples
Known GenesFILIP1, LOC100506804, TMEM30A
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)nsv830698
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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