A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544974



Internal ID319060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40027762..40035690hg38UCSC Ensembl
chr22:40423766..40431694hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg387929
hg197929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729047
Samples
Known GenesFAM83F, LOC100130899
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544974
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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