A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469791



Internal ID15187820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3700760..3885899hg38UCSC Ensembl
Innerchr17:3604054..3789193hg19UCSC Ensembl
Innerchr17:3550803..3735942hg18UCSC Ensembl
Innerchr17:3810644..3995783hg16UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38185140
hg19185140
hg18185140
hg16185140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672074
Samples
Known GenesC17orf85, CAMKK1, GSG2, ITGAE
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)nsv469791
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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