A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953362



Internal ID16955549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37367599..37447898hg38UCSC Ensembl
Outerchr21:38739901..38820200hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3880300
hg1980300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000674
SamplesBILGI_BIOE
Known GenesDYRK1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953362
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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