A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832348



Internal ID16109531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202641288..202813034hg38UCSC Ensembl
Outerchr1:202610416..202782162hg19UCSC Ensembl
Outerchr1:200877039..201048785hg18UCSC Ensembl
Outerchr1:199342073..199513819hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38171747
hg19171747
hg18171747
hg17171747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441628
Samples
Known GenesKDM5B, PCAT6, SYT2
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)nsv832348
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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