A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469597



Internal ID15534312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133415366..133577004hg38UCSC Ensembl
Innerchr10:135228870..135390508hg19UCSC Ensembl
Innerchr10:135078860..135240498hg18UCSC Ensembl
Innerchr10:134702161..134863799hg16UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38161639
hg19161639
hg18161639
hg16161639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673319, nssv1674762, nssv1672966, nssv1673146, nssv1676389, nssv1672718
Samples
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
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)nsv469597
Frequency
Sample Size265
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer