A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511633



Internal ID15851058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44300583..44300692hg38UCSC Ensembl
Outerchr21:44300490..44302559hg38UCSC Ensembl
Innerchr21:45720466..45720575hg19UCSC Ensembl
Outerchr21:45720373..45722442hg19UCSC Ensembl
Innerchr21:44544894..44545003hg18UCSC Ensembl
Outerchr21:44544801..44546870hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382070
hg192070
hg182070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626267
Samples1
Known GenesPFKL
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511633
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer