A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17218370



Internal ID21665879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5213026..5213026hg38UCSC Ensembl
chr17:5116321..5116321hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698006
Supporting Variants
Samples
Known GenesLOC100130950, SCIMP
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)nssv17218370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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