A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511631



Internal ID15504370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41474235..41475509hg38UCSC Ensembl
Outerchr21:41471827..41475581hg38UCSC Ensembl
Innerchr21:42846162..42847436hg19UCSC Ensembl
Outerchr21:42843754..42847508hg19UCSC Ensembl
Innerchr21:41768032..41769306hg18UCSC Ensembl
Outerchr21:41765624..41769378hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383755
hg193755
hg183755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626264
Samples1
Known GenesTMPRSS2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511631
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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