A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245521



Internal ID21693030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:88666224..88666224hg38UCSC Ensembl
chr3:88715374..88715374hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg382884
hg192884
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717253
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)nssv17245521
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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