A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469644



Internal ID15187673
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674485, nssv1675058, nssv1672749, nssv1673626, nssv1675892, nssv1673878, nssv1674346, nssv1675813, nssv1672723, nssv1676136, nssv1674879, nssv1672852, nssv1675946, nssv1673496, nssv1673628, nssv1672847, nssv1673195, nssv1676183, nssv1674322, nssv1674329, nssv1675338, nssv1674515, nssv1672316, nssv1674740, nssv1672385, nssv1674660, nssv1674915, nssv1673094, nssv1674453, nssv1673196, nssv1675212, nssv1676343, nssv1675790, nssv1675826, nssv1673915, nssv1672891, nssv1673568, nssv1675952, nssv1676604, nssv1674473, nssv1672948, nssv1673443, nssv1672720, nssv1675716, nssv1673773, nssv1673703, nssv1676502, nssv1674181, nssv1675296, nssv1675768, nssv1674965, nssv1674524, nssv1674351, nssv1673441, nssv1672983, nssv1674219, nssv1672567, nssv1674664
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)nsv469644
Frequency
Sample Size265
Observed Gain32
Observed Loss26
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer