A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724309



Internal ID21750630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20069753..20069753hg38UCSC Ensembl
chr2:20269514..20269514hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236287
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724309
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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