A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471703



Internal ID15214522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67393510..67554789hg38UCSC Ensembl
Innerchr17:65389626..65550905hg19UCSC Ensembl
Innerchr17:62820088..62981367hg18UCSC Ensembl
Innerchr17:65939727..66101006hg16UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38161280
hg19161280
hg18161280
hg16161280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv551221, nssv551227, nssv551225, nssv551226, nssv551223, nssv551229, nssv551228, nssv551222, nssv551224
SamplesNA15732, NA15727, NA15725, NA15733, NA15726, NA17020, NA15724, NA16688, NA10493
Known GenesMIR548AA2, PITPNC1
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)nsv471703
Frequency
Sample Size48
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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