A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511658



Internal ID15851083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:97351996..97353596hg38UCSC Ensembl
OuterchrX:97325244..97356599hg38UCSC Ensembl
InnerchrX:96606995..96608595hg19UCSC Ensembl
OuterchrX:96580243..96611598hg19UCSC Ensembl
InnerchrX:96493651..96495251hg18UCSC Ensembl
OuterchrX:96466899..96498254hg18UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3831356
hg1931356
hg1831356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626294
Samples1
Known GenesDIAPH2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511658
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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