A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424631



Internal ID203614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39340387..39340438hg38UCSC Ensembl
chr22:39736392..39736443hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729002
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424631
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer