A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425615



Internal ID204573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37824054..37824105hg38UCSC Ensembl
chr22:38220061..38220112hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728877
Samples
Known GenesGALR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425615
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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