A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17198349



Internal ID21645858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40346374..40346374hg38UCSC Ensembl
chr17:38502626..38502626hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710829
Supporting Variants
Samples
Known GenesRARA
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)nssv17198349
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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