A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242353



Internal ID21689862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42718204..42718204hg38UCSC Ensembl
chr22:43114210..43114210hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726824
Supporting Variants
Samples
Known GenesA4GALT
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)nssv17242353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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