A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730800



Internal ID21757121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12695164..12695164hg38UCSC Ensembl
chrUn_gl000235:3434..3434hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244573
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)nsv5730800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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