A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471598



Internal ID15214417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25457548..25622123hg38UCSC Ensembl
Innerchr22:25853515..26018090hg19UCSC Ensembl
Innerchr22:24183515..24348090hg18UCSC Ensembl
Innerchr22:24178069..24342644hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38164576
hg19164576
hg18164576
hg16164576
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550106, nssv550109, nssv550107, nssv550105, nssv550108
SamplesNA17016, NA17020, NA10469, NA10493, NA15731
Known GenesADRBK2, CRYBB2P1
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)nsv471598
Frequency
Sample Size48
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer