A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550798



Internal ID324310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33472686..33476148hg38UCSC Ensembl
chr21:34844993..34848455hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg383463
hg193463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726662
Samples
Known GenesTMEM50B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550798
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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