A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235295



Internal ID21682804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141238161..141238161hg38UCSC Ensembl
chr7:140937961..140937961hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716701
Supporting Variants
Samples
Known GenesTMEM178B
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)nssv17235295
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