A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249656



Internal ID21697165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60415923..60415923hg38UCSC Ensembl
chr1:60881595..60881595hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720364
Supporting Variants
Samples
Known Genes
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)nssv17249656
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