A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227540



Internal ID21675049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138523652..138523652hg38UCSC Ensembl
chr6:138844789..138844789hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681113
Supporting Variants
Samples
Known GenesNHSL1
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)nssv17227540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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