A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720383



Internal ID21746704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195328933..195328933hg38UCSC Ensembl
chr3:195049662..195049662hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245079
Samples
Known GenesACAP2
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)nsv5720383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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