A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730594



Internal ID21756915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12808231..12808231hg38UCSC Ensembl
chr4:49171081..49171081hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251467
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)nsv5730594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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