A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433187



Internal ID211912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43972396..43972447hg38UCSC Ensembl
chr22:44368276..44368327hg19UCSC Ensembl
Cytoband22q13.31
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 Variantsnssv17729370
Samples
Known GenesSAMM50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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