A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469869



Internal ID15187898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47976492..48173545hg38UCSC Ensembl
InnerchrX:47835891..48032973hg19UCSC Ensembl
InnerchrX:47720835..47917917hg18UCSC Ensembl
InnerchrX:46881873..47078955hg16UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38197054
hg19197083
hg18197083
hg16197083
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n29
Supporting Variantsnssv1672616, nssv1674653
Samples
Known GenesSPACA5, SPACA5B, SSX6, ZNF182, ZNF630
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)nsv469869
Frequency
Sample Size265
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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