A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17211795



Internal ID21659304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25184533..25184533hg38UCSC Ensembl
chr4:25186155..25186155hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682673
Supporting Variants
Samples
Known GenesSEPSECS-AS1
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)nssv17211795
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