A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv471655

Internal ID15214474
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16596746..16683598hg38UCSC Ensembl
Innerchr1:16923241..17010093hg19UCSC Ensembl
Innerchr1:16795828..16882680hg18UCSC Ensembl
Innerchr1:16304322..16391174hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550594, nssv550583, nssv550590, nssv550586, nssv550598, nssv550571, nssv550580, nssv550573, nssv550584, nssv550599, nssv550577, nssv550587, nssv550579, nssv550574, nssv550581, nssv550592, nssv550578, nssv550589, nssv550591, nssv550582, nssv550576, nssv550588, nssv550597, nssv550593, nssv550572, nssv550595, nssv550575, nssv550585, nssv550596
SamplesJK1058B, NA17016, NA10494, NA11521, NA10496, NA17020, NA10976, NA15724, NA15728, NA11523, NA15732, NA17052, P86GA, NA15730, NA10469, NA10967, NA10969, NA15726, NA15725, NA17059, JK1051A, NA17015, JK776, NA10495, NA17014, NA17051, NA10979, NA15731, NA15733
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
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.
Pubmed ID15918152
Accession Number(s)nsv471655
Sample Size48
Observed Gain2
Observed Loss27
Observed Complex0

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