A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693600



Internal ID21719921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124544861..124544861hg38UCSC Ensembl
chr5:123880554..123880554hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233275, nssv17178236
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)nsv5693600
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer