A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1446034



Internal ID16096638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38179106..38350917hg38UCSC Ensembl
Outerchr7:38218708..38390518hg19UCSC Ensembl
Outerchr7:38185233..38357043hg18UCSC Ensembl
Outerchr7:37991948..38163758hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38171812
hg19171811
hg18171811
hg17171811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830964
Supporting Variants
Samples
Known GenesSTARD3NL, TARP, TRG-AS1
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)nssv1446034
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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