A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469734



Internal ID15187763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49205141..49320261hg38UCSC Ensembl
InnerchrX:49061601..49176740hg19UCSC Ensembl
InnerchrX:48948545..49063684hg18UCSC Ensembl
InnerchrX:48087835..48202974hg16UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38115121
hg19115140
hg18115140
hg16115140
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673012, nssv1673988, nssv1673317, nssv1674395, nssv1674970, nssv1675226, nssv1672860, nssv1672465, nssv1675984
Samples
Known GenesCACNA1F, CCDC22, FOXP3, GAGE10, PPP1R3F
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)nsv469734
Frequency
Sample Size265
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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