A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675413



Internal ID21701734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42785286..42785286hg38UCSC Ensembl
chr3:42826778..42826778hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215920, nssv17208885
Samples
Known GenesHIGD1A
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)nsv5675413
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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