A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831303



Internal ID16455172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149080090..149170310hg38UCSC Ensembl
Outerchr1:144523643..144617215hg19UCSC Ensembl
Outerchr1:143235000..143328572hg18UCSC Ensembl
Outerchr1:142100998..142194570hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3890221
hg1993573
hg1893573
hg1793573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449629, nssv1449617
Samples
Known GenesLOC100288142, NBPF12, NBPF8, NBPF9, PFN1P2
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)nsv831303
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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