A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1674228



Internal ID15185050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50033752..50149727hg38UCSC Ensembl
Innerchr19:50537009..50652984hg19UCSC Ensembl
Innerchr19:55228821..55344796hg18UCSC Ensembl
Innerchr19:55228821..55344796hg16UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38115976
hg19115976
hg18115976
hg16115976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469748
Supporting Variants
Samples
Known GenesFLJ26850, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, ZNF473
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nssv1674228
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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