A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469888



Internal ID15534603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48033719..48213935hg38UCSC Ensembl
InnerchrX:47893114..48073370hg19UCSC Ensembl
InnerchrX:47778058..47958314hg18UCSC Ensembl
InnerchrX:46939096..47119352hg16UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38180217
hg19180257
hg18180257
hg16180257
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n29
Supporting Variantsnssv1673933, nssv1673837, nssv1675155
Samples
Known GenesSPACA5, SPACA5B, SSX5, SSX6, 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)nsv469888
Frequency
Sample Size265
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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