A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830890



Internal ID16108073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5425302..5665527hg38UCSC Ensembl
Outerchr7:5464933..5705158hg19UCSC Ensembl
Outerchr7:5431459..5671684hg18UCSC Ensembl
Outerchr7:5238174..5478399hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38240226
hg19240226
hg18240226
hg17240226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445893, nssv1445891, nssv1445892, nssv1445894, nssv1445896
Samples
Known GenesACTB, FBXL18, FSCN1, MIR589, RNF216, RNF216-IT1
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)nsv830890
Frequency
Sample Size95
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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