A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676740



Internal ID21703061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150040561..150040561hg38UCSC Ensembl
chr3:149758348..149758348hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210771, nssv17224924
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)nsv5676740
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