A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717833



Internal ID21744154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:58610014..58610014hg38UCSC Ensembl
chr15:58902213..58902213hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234525, nssv17249718
Samples
Known GenesADAM10
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)nsv5717833
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer