A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv550114



Internal ID15212106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46139381..46300887hg38UCSC Ensembl
Innerchr17:44216747..44378253hg19UCSC Ensembl
Innerchr17:41572524..41734030hg18UCSC Ensembl
Innerchr17:44692163..44853669hg16UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38161507
hg19161507
hg18161507
hg16161507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471698
Supporting Variants
SamplesNA10470
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
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)nssv550114
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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