A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721956



Internal ID21748277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44353824..44353824hg38UCSC Ensembl
chr22:44749704..44749704hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241469, nssv17244575
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5721956
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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