A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708972



Internal ID21735293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35407945..35407945hg38UCSC Ensembl
chr22:35803938..35803938hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204160
Samples
Known GenesMCM5
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5708972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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