A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17183586



Internal ID21631095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60282294..60282294hg38UCSC Ensembl
chr8:61194853..61194853hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709744
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)nssv17183586
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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