A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469748



Internal ID15187777
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674228, nssv1675589, nssv1672694, nssv1672569, nssv1674944, nssv1675701, nssv1673439
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)nsv469748
Frequency
Sample Size265
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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