A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471605



Internal ID15561119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135720375..135945271hg38UCSC Ensembl
InnerchrX:134867459..135027430hg19UCSC Ensembl
InnerchrX:134695125..134855096hg18UCSC Ensembl
InnerchrX:133573066..133733037hg16UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38224897
hg19159972
hg18159972
hg16159972
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549364, nssv549361, nssv549376, nssv549365, nssv549360, nssv549370, nssv549373, nssv549383, nssv549380, nssv549378, nssv549381, nssv549382, nssv549384, nssv549351, nssv549352, nssv549359, nssv549368, nssv549375, nssv549371, nssv549379, nssv549367, nssv549377, nssv549362, nssv549374, nssv549366, nssv549354, nssv549372, nssv549363, nssv549355, nssv549369, nssv549358, nssv549353, nssv549350, nssv549356, nssv549357
SamplesNA10971, NA15732, JK1051A, JK776, NA17059, NA17058, NA10473, NA10496, NA15727, NA15725, NA15733, NA15726, NA11521, NA15731, NA10470, NA17052, NA10979, NA11523, NA10969, NA10471, NA10472, NA15724, NA17016, NA10967, NA10976, JK1061, NA17017, NA17051, NA15729, NA17014, NA15730, NA16688, NA10493, NA10970, NA11323
Known GenesCT45A2, CT45A3, CT45A4, CT45A5, CT45A6, SAGE1
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)nsv471605
Frequency
Sample Size48
Observed Gain25
Observed Loss10
Observed Complex0
Frequencyn/a


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