A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223985



Internal ID21671494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28048179..28048179hg38UCSC Ensembl
chr17:26375205..26375205hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710847
Supporting Variants
Samples
Known GenesNLK
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)nssv17223985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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