A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543991



Internal ID318191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40193345..40196812hg38UCSC Ensembl
chr21:41565272..41568739hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg383468
hg193468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726931
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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