A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956894



Internal ID22732050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42570032..42572439hg38UCSC Ensembl
chr21:43990142..43992549hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382408
hg192408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405953
Samples
Known GenesSLC37A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956894
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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