A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960398



Internal ID22735377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45176476..45177322hg38UCSC Ensembl
chr22:45572357..45573203hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408692
Samples
Known GenesNUP50
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960398
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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