A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511173



Internal ID15503912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:223969309..223969725hg38UCSC Ensembl
Outerchr2:223964259..223970652hg38UCSC Ensembl
Innerchr2:224834026..224834442hg19UCSC Ensembl
Outerchr2:224828976..224835369hg19UCSC Ensembl
Innerchr2:224542270..224542686hg18UCSC Ensembl
Outerchr2:224537220..224543613hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg386394
hg196394
hg186394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626255
Samples1
Known GenesMRPL44
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511173
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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