A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553320



Internal ID326578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38480005..38480078hg38UCSC Ensembl
chr22:38876010..38876083hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728936
Samples
Known GenesKDELR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553320
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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