A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17174002



Internal ID21621511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80221945..80221945hg38UCSC Ensembl
chr4:81143099..81143099hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678724
Supporting Variants
Samples
Known Genes
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)nssv17174002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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