A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194987



Internal ID21642496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76443435..76443435hg38UCSC Ensembl
chr13:77017571..77017571hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706170
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)nssv17194987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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