A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234279



Internal ID21681788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42817608..42817608hg38UCSC Ensembl
chr3:42859100..42859100hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726682
Supporting Variants
Samples
Known GenesACKR2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17234279
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