A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471639



Internal ID15561153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56714611..56897793hg38UCSC Ensembl
Innerchr7:56782304..56965485hg19UCSC Ensembl
Innerchr7:56749798..56932979hg18UCSC Ensembl
Innerchr7:56524053..56707234hg16UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38183183
hg19183182
hg18183182
hg16183182
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549216, nssv549208, nssv549209, nssv549214, nssv549212, nssv549213, nssv549215, nssv549219, nssv549220, nssv549210, nssv549217, nssv549218, nssv549221, nssv549211
SamplesJK1051A, NA10469, P86GA, NA17059, NA10473, NA15726, NA11521, NA17020, NA11523, NA10471, JK1061, NA10495, NA17014, NA11323
Known GenesLOC100130849
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)nsv471639
Frequency
Sample Size48
Observed Gain11
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer