A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831747



Internal ID16108930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161956577..162133521hg38UCSC Ensembl
Outerchr1:161926367..162103311hg19UCSC Ensembl
Outerchr1:160192991..160369935hg18UCSC Ensembl
Outerchr1:158658025..158834969hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38176945
hg19176945
hg18176945
hg17176945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450962, nssv1451006, nssv1450984, nssv1450995, nssv1451017, nssv1450950, nssv1451039, nssv1450973, nssv1451028
Samples
Known GenesATF6, NOS1AP, OLFML2B
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)nsv831747
Frequency
Sample Size95
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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