A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722185



Internal ID21748506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174820764..174820764hg38UCSC Ensembl
chr2:175685492..175685492hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244500
Samples
Known GenesCHN1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722185
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