A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542537



Internal ID316949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30638632..30640150hg38UCSC Ensembl
chr22:31034619..31036137hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728433
Samples
Known GenesSLC35E4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542537
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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