A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17231750



Internal ID21679259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38114772..38114772hg38UCSC Ensembl
chr8:37972290..37972290hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711071
Supporting Variants
Samples
Known GenesASH2L
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)nssv17231750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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