A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549459



Internal ID15558826
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 Flag1
Merged StatusS
Merged Variantsnsv471701
Supporting Variants
SamplesNA10471
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)nssv549459
Frequency
Sample Size48
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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