A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830069



Internal ID16453938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131844803..132021189hg38UCSC Ensembl
Outerchr4:132765958..132942344hg19UCSC Ensembl
Outerchr4:132985408..133161794hg18UCSC Ensembl
Outerchr4:133123563..133299949hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38176387
hg19176387
hg18176387
hg17176387
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443954, nssv1443953, nssv1443955, nssv1443949, nssv1443956, nssv1443950, nssv1443948, nssv1443952
Samples
Known Genes
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)nsv830069
Frequency
Sample Size95
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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