A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469679



Internal ID15534394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13571273..13750252hg38UCSC Ensembl
Innerchr17:13474590..13653569hg19UCSC Ensembl
Innerchr17:13415315..13594294hg18UCSC Ensembl
Innerchr17:13675156..13854135hg16UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38178980
hg19178980
hg18178980
hg16178980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675835, nssv1675387, nssv1676715, nssv1673944, nssv1674381, nssv1672507, nssv1675707, nssv1675251
Samples
Known GenesHS3ST3A1
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)nsv469679
Frequency
Sample Size265
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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