A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469601



Internal ID15187630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3086643..3256558hg38UCSC Ensembl
Innerchr17:2989937..3159852hg19UCSC Ensembl
Innerchr17:2936687..3106602hg18UCSC Ensembl
Innerchr17:3196528..3366443hg16UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38169916
hg19169916
hg18169916
hg16169916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4n29
Supporting Variantsnssv1676583
Samples
Known GenesOR1A1, OR1A2, OR1D2, OR1D4, OR1G1
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)nsv469601
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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