A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1673012



Internal ID15183834
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469734
Supporting Variants
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)nssv1673012
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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