A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1446804



Internal ID16097408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:151452021..151622168hg38UCSC Ensembl
Outerchr7:151149107..151319254hg19UCSC Ensembl
Outerchr7:150780040..150950187hg18UCSC Ensembl
Outerchr7:150586755..150756902hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38170148
hg19170148
hg18170148
hg17170148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv831189
Supporting Variants
Samples
Known GenesPRKAG2, RHEB
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)nssv1446804
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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