A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471623



Internal ID15561137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322917..9592435hg38UCSC Ensembl
Innerchr4:9324643..9594059hg19UCSC Ensembl
Innerchr4:8933741..9203157hg18UCSC Ensembl
Innerchr4:9041260..9344942hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38269519
hg19269417
hg18269417
hg16303683
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549713, nssv549723, nssv549717, nssv650988, nssv650979, nssv650984, nssv650987, nssv650994, nssv549724, nssv650980, nssv650978, nssv549725, nssv549721, nssv650986, nssv549732, nssv650977, nssv549716, nssv549729, nssv549733, nssv549722, nssv549728, nssv549715, nssv549726, nssv650981, nssv549720, nssv650989, nssv650990, nssv650982, nssv549730, nssv650985, nssv650993, nssv549727, nssv650992, nssv650991, nssv549731, nssv549734, nssv650995, nssv549718, nssv549719, nssv650983, nssv549714
SamplesNA10971, JK1051A, NA10469, JK776, NA10473, NA10496, NA17015, NA15725, NA15733, NA11521, NA10470, NA10979, NA11523, NA10969, NA10472, NA17016, NA11776, NA10967, NA10976, NA10494, NA17017, NA17051, NA15729, NA17014, NA15730, NA11323
Known GenesDEFB131, LOC650293, MIR548I2, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)nsv471623
Frequency
Sample Size48
Observed Gain6
Observed Loss20
Observed Complex0
Frequencyn/a


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