A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471622



Internal ID8528109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12155207..12371588hg38UCSC Ensembl
Innerchr1:12215264..12431643hg19UCSC Ensembl
Innerchr1:12137851..12354230hg18UCSC Ensembl
Innerchr1:11924810..12112733hg16UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38216382
hg19216380
hg18216380
hg16187924
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550339, nssv550334, nssv550323, nssv550325, nssv550320, nssv550338, nssv550328, nssv550343, nssv550324, nssv550340, nssv550321, nssv550342, nssv550319, nssv550322, nssv550336, nssv550332, nssv550341, nssv550318, nssv550329, nssv550330, nssv550331, nssv550333, nssv550337, nssv550327, nssv550326, nssv550335
SamplesNA15727, NA11776, NA10494, NA17020, NA10976, NA15724, NA15728, NA15732, NA17052, P86GA, NA10970, NA15730, NA10967, NA16688, NA10969, NA15726, NA15725, NA17059, NA17015, NA17014, NA17051, NA10492, NA10979, NA17017, NA10971, NA15733
Known GenesMIR4632, MIR7846, TNFRSF1B, VPS13D
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)nsv471622
Frequency
Sample Size48
Observed Gain1
Observed Loss25
Observed Complex0
Frequencyn/a


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