A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238564



Internal ID21686073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88835353..88835353hg38UCSC Ensembl
chr5:88131170..88131170hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730372
Supporting Variants
Samples
Known GenesMEF2C
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)nssv17238564
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