A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730928



Internal ID21757249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100847222..100847222hg38UCSC Ensembl
chr1:101312778..101312778hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236995
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)nsv5730928
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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