A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471643



Internal ID15214462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102562589..102719526hg38UCSC Ensembl
Innerchr7:102203036..102359973hg19UCSC Ensembl
Innerchr7:101990134..102147209hg18UCSC Ensembl
Innerchr7:101763595..101920490hg16UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38156938
hg19156938
hg18157076
hg16156896
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550005, nssv550001, nssv550012, nssv549991, nssv550017, nssv550011, nssv550009, nssv549993, nssv550006, nssv550000, nssv549995, nssv549994, nssv550015, nssv550004, nssv549992, nssv550007, nssv550010, nssv550013, nssv550018, nssv550008, nssv550019, nssv550014, nssv549996, nssv549998, nssv549999, nssv550003, nssv550016, nssv549997, nssv550002
SamplesJK1058B, NA11323, NA10494, NA16689, NA11521, NA10976, NA15728, NA11523, NA17052, P86GA, NA15730, NA10967, NA16688, NA10969, NA15726, NA15725, NA17059, JK1061, JK1688B, JK1051A, NA17058, NA10495, NA17014, NA17051, NA15729, NA10492, NA10979, NA17017, NA15731
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nsv471643
Frequency
Sample Size48
Observed Gain4
Observed Loss25
Observed Complex0
Frequencyn/a


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