A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723672



Internal ID21749993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147937095..147937095hg38UCSC Ensembl
chr2:148694664..148694664hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235180
Samples
Known GenesORC4
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)nsv5723672
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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