A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528843



Internal ID304884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18561481..18569474hg38UCSC Ensembl
chr21:19933799..19941792hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg387994
hg197994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734191
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528843
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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