A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693990



Internal ID21720311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61204115..61204115hg38UCSC Ensembl
chr5:60499942..60499942hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212171, nssv17175503
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)nsv5693990
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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