A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203976



Internal ID20771016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41166801..41169000hg38UCSC Ensembl
chr21:42538728..42540927hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6538987
Supporting Variants
Samples
Known GenesBACE2, MIR3197
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203976
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


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