A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728621



Internal ID21754942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191843726..191843726hg38UCSC Ensembl
chr2:192708452..192708452hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg382156
hg192156
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234577
Samples
Known GenesSDPR
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)nsv5728621
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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