A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511666



Internal ID15851091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:115307995..115309630hg38UCSC Ensembl
OuterchrX:115306992..115310755hg38UCSC Ensembl
InnerchrX:114542560..114544195hg19UCSC Ensembl
OuterchrX:114541557..114545320hg19UCSC Ensembl
InnerchrX:114448816..114450451hg18UCSC Ensembl
OuterchrX:114447813..114451576hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383764
hg193764
hg183764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65n50
Supporting Variantsnssv626303
Samples1
Known GenesLUZP4
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511666
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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