A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708516



Internal ID21734837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37100938..37100938hg38UCSC Ensembl
chr19:37591840..37591840hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202719
Samples
Known GenesZNF420
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5708516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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