A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248161



Internal ID21695670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23380104..23380104hg38UCSC Ensembl
chr3:23421595..23421595hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722338
Supporting Variants
Samples
Known GenesMIR548AC, UBE2E2
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)nssv17248161
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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