A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204094



Internal ID21651603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38232758..38232758hg38UCSC Ensembl
chr21:39604680..39604680hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696382
Supporting Variants
Samples
Known GenesKCNJ15
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)nssv17204094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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