A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471664



Internal ID15214483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14676176..14826378hg38UCSC Ensembl
Innerchr10:14718175..14868377hg19UCSC Ensembl
Innerchr10:14758181..14908383hg18UCSC Ensembl
Innerchr10:14722181..14872383hg16UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38150203
hg19150203
hg18150203
hg16150203
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv551008, nssv551007, nssv551012, nssv551010, nssv551013, nssv551011, nssv551009
SamplesNA10494, NA10969, NA17059, NA10493, NA17014, NA10979, NA15733
Known GenesCDNF, FAM107B
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)nsv471664
Frequency
Sample Size48
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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