A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471642



Internal ID15214461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:78919004..79088289hg38UCSC Ensembl
Innerchr7:78548320..78717605hg19UCSC Ensembl
Innerchr7:78386256..78555541hg18UCSC Ensembl
Innerchr7:78160371..78329656hg16UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38169286
hg19169286
hg18169286
hg16169286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv551118, nssv551115, nssv551116, nssv551119, nssv551117
SamplesNA10470, NA10472, JK1061, NA10494, NA15730
Known GenesMAGI2, MAGI2-AS2
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)nsv471642
Frequency
Sample Size48
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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