A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538084



Internal ID313249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31538150..31542971hg38UCSC Ensembl
chr22:31934136..31938957hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg384822
hg194822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728497
Samples
Known GenesSFI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538084
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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