A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1445289



Internal ID16095893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24711858..24896419hg38UCSC Ensembl
Outerchr6:24712086..24896647hg19UCSC Ensembl
Outerchr6:24820065..25004626hg18UCSC Ensembl
Outerchr6:24820065..25004626hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38184562
hg19184562
hg18184562
hg17184562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830609
Supporting Variants
Samples
Known GenesC6orf62, FAM65B, GMNN, LOC101928603
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)nssv1445289
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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