A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831132



Internal ID16455001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:130511850..130727326hg38UCSC Ensembl
Outerchr7:130151691..130412153hg19UCSC Ensembl
Outerchr7:129938927..130062693hg18UCSC Ensembl
Outerchr7:129745642..129869408hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38215477
hg19260463
hg18123767
hg17123767
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446492, nssv1446491, nssv1446496, nssv1446482, nssv1446477, nssv1446486, nssv1446490, nssv1446481, nssv1446494, nssv1446493, nssv1446478, nssv1446480, nssv1446488, nssv1446483, nssv1446497, nssv1446479, nssv1446487, nssv1446489, nssv1446476, nssv1446498, nssv1446485
Samples
Known GenesCOPG2, TSGA13
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)nsv831132
Frequency
Sample Size95
Observed Gain9
Observed Loss12
Observed Complex0
Frequencyn/a


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