A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511654



Internal ID15504393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:16869857..16871057hg38UCSC Ensembl
OuterchrX:16868458..16876792hg38UCSC Ensembl
InnerchrX:16887980..16889180hg19UCSC Ensembl
OuterchrX:16886581..16894915hg19UCSC Ensembl
InnerchrX:16797901..16799101hg18UCSC Ensembl
OuterchrX:16796502..16804836hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg388335
hg198335
hg188335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626290
Samples1
Known GenesRBBP7
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511654
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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