A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728240



Internal ID21754561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173338481..173338481hg38UCSC Ensembl
chr1:173307620..173307620hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383267
hg193267
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237585, nssv17243345
Samples
Known GenesLOC100506023
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)nsv5728240
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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