A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724769



Internal ID21751090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20830866..20830866hg38UCSC Ensembl
chr1:21157359..21157359hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234873, nssv17247953
Samples
Known GenesEIF4G3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724769
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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