A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541971



Internal ID316476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42348995..42349684hg38UCSC Ensembl
chr21:43769104..43769793hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727056
Samples
Known GenesTFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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