A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541297



Internal ID315919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43937712..43938555hg38UCSC Ensembl
chr21:45357593..45358436hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38844
hg19844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734843
Samples
Known GenesAGPAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541297
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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