A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240643



Internal ID21688152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29181378..29181378hg38UCSC Ensembl
chr22:29577366..29577366hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716986
Supporting Variants
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)nssv17240643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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