A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511632



Internal ID15504371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550492..43553303hg38UCSC Ensembl
Outerchr21:43543806..43567198hg38UCSC Ensembl
Innerchr21:44970373..44973184hg19UCSC Ensembl
Outerchr21:44963686..44987079hg19UCSC Ensembl
Innerchr21:43794801..43797612hg18UCSC Ensembl
Outerchr21:43788114..43811507hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3823393
hg1923394
hg1823394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626265
Samples1
Known GenesHSF2BP
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511632
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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