A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18069479



Internal ID20636519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18051901..18054400hg38UCSC Ensembl
chr21:19424219..19426718hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6538522
Supporting Variants
Samples
Known GenesCHODL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18069479
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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