A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832925



Internal ID16110108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234673556..234855982hg38UCSC Ensembl
Outerchr1:234809302..234991729hg19UCSC Ensembl
Outerchr1:232875925..233058352hg18UCSC Ensembl
Outerchr1:231116037..231298464hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38182427
hg19182428
hg18182428
hg17182428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441730, nssv1441728, nssv1441731
Samples
Known GenesLINC01132
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)nsv832925
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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