A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830101



Internal ID16107284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:142597657..142763239hg38UCSC Ensembl
Outerchr4:143518810..143684392hg19UCSC Ensembl
Outerchr4:143738260..143903842hg18UCSC Ensembl
Outerchr4:143876415..144041997hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38165583
hg19165583
hg18165583
hg17165583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444012
Samples
Known GenesINPP4B
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)nsv830101
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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