A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469867



Internal ID15187896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153813281..154018926hg38UCSC Ensembl
InnerchrX:153078736..153284377hg19UCSC Ensembl
InnerchrX:152731930..152937571hg18UCSC Ensembl
InnerchrX:151546640..151752281hg16UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38205646
hg19205642
hg18205642
hg16205642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673478
Samples
Known GenesARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MIR3202-1, MIR3202-2, NAA10, PDZD4, RENBP, TMEM187
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)nsv469867
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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