A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832949



Internal ID16110132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:30622292..30760600hg38UCSC Ensembl
Outerchr15:30914495..31052803hg19UCSC Ensembl
Outerchr15:28701787..28840095hg18UCSC Ensembl
Outerchr15:28701787..28840095hg17UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38138309
hg19138309
hg18138309
hg17138309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451730, nssv1451732, nssv1451728, nssv1451738, nssv1451725, nssv1451774, nssv1451748, nssv1451755, nssv1451749, nssv1451769, nssv1451754, nssv1451737, nssv1451761, nssv1451720, nssv1451758, nssv1451759, nssv1451766, nssv1451771, nssv1451742, nssv1451746, nssv1451723, nssv1451744, nssv1451739, nssv1451727, nssv1451760, nssv1451734, nssv1451775, nssv1451726, nssv1451757, nssv1451731, nssv1451753, nssv1451765, nssv1451741, nssv1451767, nssv1451722, nssv1451724, nssv1451740, nssv1451762, nssv1451772, nssv1451721, nssv1451733, nssv1451756, nssv1451773, nssv1451763, nssv1451764, nssv1451770, nssv1451750, nssv1451747, nssv1451768, nssv1451735, nssv1451743, nssv1451729, nssv1451736, nssv1451751, nssv1451752, nssv1451745
Samples
Known GenesARHGAP11B, LOC100288637
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)nsv832949
Frequency
Sample Size95
Observed Gain56
Observed Loss0
Observed Complex0
Frequencyn/a


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