A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722873



Internal ID21749194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61921701..61921701hg38UCSC Ensembl
chr16:61955605..61955605hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237313
Samples
Known GenesCDH8
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)nsv5722873
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