A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471652



Internal ID15561166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12340181..12497385hg38UCSC Ensembl
Innerchr8:12197690..12354894hg19UCSC Ensembl
Innerchr8:12242061..12399265hg18UCSC Ensembl
Innerchr8:12208056..12365260hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38157205
hg19157205
hg18157205
hg16157205
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549157, nssv549156, nssv549159, nssv549154, nssv549160, nssv549158, nssv549155
SamplesNA10469, NA10492, NA15725, NA10471, JK1058B, JK1061, NA16688
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
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)nsv471652
Frequency
Sample Size48
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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