A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537490



Internal ID312749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32762834..32763867hg38UCSC Ensembl
chr21:34135145..34136178hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381034
hg191034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726624
Samples
Known GenesPAXBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537490
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer