A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513717



Internal ID15506452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40022495..40038089hg38UCSC Ensembl
Outerchr21:41394422..41410016hg19UCSC Ensembl
Outerchr21:40316292..40331886hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3815595
hg1915595
hg1815595
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626969
Samples1
Known GenesDSCAM
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513717
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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