A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725330



Internal ID21751651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23913064..23913064hg38UCSC Ensembl
chr3:23954555..23954555hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251191
Samples
Known GenesNKIRAS1
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)nsv5725330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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