A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236812



Internal ID21684321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74211945..74211945hg38UCSC Ensembl
chr1:74677629..74677629hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719424
Supporting Variants
Samples
Known GenesFPGT-TNNI3K
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)nssv17236812
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