A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471690



Internal ID15561204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85176913..85268905hg38UCSC Ensembl
Innerchr15:85720144..85812136hg19UCSC Ensembl
Innerchr15:83521148..83613140hg18UCSC Ensembl
Innerchr15:83449912..83541904hg16UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3891993
hg1991993
hg1891993
hg1691993
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548868, nssv548873, nssv548871, nssv548875, nssv548870, nssv548874, nssv548869, nssv548876, nssv548872
SamplesJK1051A, NA16689, NA15733, NA15726, NA11523, JK1061, NA17051, NA16688, NA10493
Known GenesLOC440300, LOC642423
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)nsv471690
Frequency
Sample Size48
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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