A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17180423



Internal ID21627932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:100998233..100998233hg38UCSC Ensembl
chr6:101446109..101446109hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693244
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)nssv17180423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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