A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471594



Internal ID15214413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18076012..18882129hg38UCSC Ensembl
Innerchr22:18558778..18869642hg19UCSC Ensembl
Innerchr22:16938778..17249642hg18UCSC Ensembl
Innerchr22:16933332..17244196hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38806118
hg19310865
hg18310865
hg16310865
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550956, nssv550963, nssv549284, nssv549256, nssv549281, nssv550953, nssv549282, nssv550970, nssv550952, nssv549269, nssv549255, nssv549273, nssv549260, nssv549262, nssv550943, nssv549271, nssv550955, nssv549259, nssv550960, nssv550954, nssv550959, nssv550941, nssv549252, nssv549266, nssv549274, nssv550957, nssv549272, nssv550971, nssv549263, nssv550948, nssv550947, nssv550962, nssv550965, nssv550969, nssv550951, nssv550968, nssv550949, nssv549283, nssv549268, nssv549257, nssv549267, nssv549278, nssv549280, nssv550966, nssv549264, nssv550973, nssv550950, nssv550967, nssv549253, nssv549254, nssv549270, nssv550958, nssv549277, nssv550944, nssv550946, nssv550945, nssv549276, nssv549258, nssv549275, nssv550961, nssv549265, nssv550942, nssv549279, nssv550972, nssv550964
SamplesNA15727, NA17016, NA11323, NA10494, NA16689, NA10496, NA17020, NA10976, NA15724, NA15728, NA10473, NA11523, NA15732, NA17052, P86GA, NA10970, NA10471, NA15730, NA10469, NA10967, NA16688, NA10969, NA15726, NA15725, NA17059, NA17015, NA17058, JK776, NA10493, NA17014, NA17051, NA10492, NA10979, NA17017, NA15731, NA10971, NA15733
Known GenesGGT3P, PEX26, TUBA8, USP18
MethodBAC aCGH
AnalysisArray image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.
PlatformGPL4010
Comments
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nsv471594
Frequency
Sample Size48
Observed Gain2
Observed Loss35
Observed Complex0
Frequencyn/a


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