A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234583



Internal ID21682092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58391611..58391611hg38UCSC Ensembl
chr3:58377338..58377338hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg385735
hg195735
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714974
Supporting Variants
Samples
Known GenesPXK
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)nssv17234583
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