A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471634



Internal ID15214453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141106394..141258375hg38UCSC Ensembl
Innerchr5:140485978..140637943hg19UCSC Ensembl
Innerchr5:140466162..140618127hg18UCSC Ensembl
Innerchr5:140514479..140666444hg16UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38151982
hg19151966
hg18151966
hg16151966
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv551159, nssv551160, nssv551158, nssv551163, nssv551165, nssv551161, nssv551162, nssv551167, nssv551166, nssv551164
SamplesNA10469, NA15728, NA15733, NA11521, NA10470, NA11523, NA10471, NA15724, NA17016, NA11323
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9
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)nsv471634
Frequency
Sample Size48
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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