A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471701



Internal ID15561096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47434217..47621576hg38UCSC Ensembl
Innerchr17:45511583..45698942hg19UCSC Ensembl
Innerchr17:42866582..43053941hg18UCSC Ensembl
Innerchr17:45986221..46173580hg16UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38187360
hg19187360
hg18187360
hg16187360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549468, nssv549461, nssv549460, nssv549458, nssv549464, nssv549465, nssv549469, nssv549466, nssv549471, nssv549462, nssv549457, nssv549463, nssv549467, nssv549459, nssv549470
SamplesJK1051A, NA10469, JK776, P86GA, NA10473, NA17015, NA10492, NA10470, NA17052, NA10471, NA10472, JK1688B, NA10495, NA10494, NA10493
Known GenesEFCAB13, MRPL45P2, NPEPPS
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)nsv471701
Frequency
Sample Size48
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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