A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200240



Internal ID21647749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35934565..35934565hg38UCSC Ensembl
chr17:34261569..34261569hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703481
Supporting Variants
Samples
Known GenesLYZL6
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)nssv17200240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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