A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708753



Internal ID21735074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29454595..29454595hg38UCSC Ensembl
chr21:30826915..30826915hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203677
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)nsv5708753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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