A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702915



Internal ID21729236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43474542..43474542hg38UCSC Ensembl
chr19:43978694..43978694hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199875
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)nsv5702915
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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