A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626304



Internal ID15503151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:114978787..115164801hg38UCSC Ensembl
OuterchrX:114971055..115172427hg38UCSC Ensembl
InnerchrX:114213350..114399364hg19UCSC Ensembl
OuterchrX:114205618..114406990hg19UCSC Ensembl
InnerchrX:114119606..114305620hg18UCSC Ensembl
OuterchrX:114111874..114313246hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38201373
hg19201373
hg18201373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511667
Supporting Variants
Samples1
Known GenesIL13RA2, LRCH2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626304
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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