A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469808



Internal ID15187837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47972502..48151311hg38UCSC Ensembl
Innerchr17:46049868..46228673hg19UCSC Ensembl
Innerchr17:43404867..43583672hg18UCSC Ensembl
Innerchr17:46524506..46703311hg16UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38178810
hg19178806
hg18178806
hg16178806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673423
Samples
Known GenesCBX1, CDK5RAP3, COPZ2, MIR152, NFE2L1, SKAP1, SNX11
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)nsv469808
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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