A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469647



Internal ID15187676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20648940..20848425hg38UCSC Ensembl
Innerchr17:20552253..20751738hg19UCSC Ensembl
Innerchr17:20492845..20692330hg18UCSC Ensembl
Innerchr17:20714282..20913767hg16UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38199486
hg19199486
hg18199486
hg16199486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675363
Samples
Known GenesLOC100287072
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)nsv469647
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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