A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471702



Internal ID15214521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59895972..60081795hg38UCSC Ensembl
Innerchr17:57973333..58159156hg19UCSC Ensembl
Innerchr17:55328115..55513938hg18UCSC Ensembl
Innerchr17:58447754..58633577hg16UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38185824
hg19185824
hg18185824
hg16185824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550670, nssv550671
SamplesNA10470, NA10471
Known GenesHEATR6, MIR4737, RNFT1, RPS6KB1, TBC1D3P1-DHX40P1
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)nsv471702
Frequency
Sample Size48
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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