A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1674660



Internal ID15185482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46508998..46678229hg38UCSC Ensembl
Innerchr17:44586364..44755595hg19UCSC Ensembl
Innerchr17:41941680..42110774hg18UCSC Ensembl
Innerchr17:45061319..45230413hg16UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38169232
hg19169232
hg18169095
hg16169095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469644
Supporting Variants
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
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)nssv1674660
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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