A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723463



Internal ID21749784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113009884..113009884hg38UCSC Ensembl
chr2:113767461..113767461hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238824
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)nsv5723463
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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