A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5564071



Internal ID336993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42988174..42988181hg38UCSC Ensembl
chr22:43384180..43384187hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729279
Samples
Known GenesPACSIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5564071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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