A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965952



Internal ID22740887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44306488..44306618hg38UCSC Ensembl
chr21:45726371..45726501hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397574
Samples
Known GenesPFKL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965952
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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