A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548219



Internal ID321994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41752404..41752468hg38UCSC Ensembl
chr21:43172564..43172628hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727014
Samples
Known GenesRIPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548219
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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