A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469865



Internal ID15187894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79770348..79957778hg38UCSC Ensembl
Innerchr17:77744147..77931577hg19UCSC Ensembl
Innerchr17:75358742..75546172hg18UCSC Ensembl
Innerchr17:78444266..78631696hg16UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38187431
hg19187431
hg18187431
hg16187431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672422, nssv1675464
Samples
Known GenesCBX2, CBX4, CBX8, TBC1D16
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)nsv469865
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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