A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961933



Internal ID22736872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32225233..32225531hg38UCSC Ensembl
chr20:30813036..30813334hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407694
Samples
Known GenesPOFUT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961933
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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