A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471621



Internal ID15214440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195690793..196068603hg38UCSC Ensembl
Innerchr3:195417664..195795474hg19UCSC Ensembl
Innerchr3:196902845..197279871hg18UCSC Ensembl
Innerchr3:196744969..197121995hg16UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38377811
hg19377811
hg18377027
hg16377027
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548783, nssv548772, nssv549519, nssv548773, nssv548776, nssv548781, nssv548778, nssv549524, nssv549517, nssv548774, nssv549516, nssv548786, nssv548775, nssv549518, nssv548782, nssv549522, nssv549520, nssv549515, nssv549523, nssv548785, nssv548779, nssv548784, nssv548777, nssv549525, nssv548780, nssv549521
SamplesNA15727, NA16689, NA10976, NA15728, NA11523, P86GA, NA10970, NA10469, NA15726, JK1051A, NA17015, NA17058, NA10495, NA15729, NA10979, NA15731, NA10971, NA15733
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, TFRC, TNK2
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)nsv471621
Frequency
Sample Size48
Observed Gain9
Observed Loss9
Observed Complex0
Frequencyn/a


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