A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210859



Internal ID21658368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185375488..185375488hg38UCSC Ensembl
chr4:186296642..186296642hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5691262
Supporting Variants
Samples
Known GenesLRP2BP
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)nssv17210859
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