A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729073



Internal ID21755394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44231802..44231802hg38UCSC Ensembl
chr19:44735955..44735955hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247975, nssv17237115
Samples
Known GenesZNF227
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)nsv5729073
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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