A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713638



Internal ID21739959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42589990..42589990hg38UCSC Ensembl
chr8:42445133..42445133hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184614
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)nsv5713638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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