A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692041



Internal ID21718362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169945799..169945799hg38UCSC Ensembl
chr4:170866950..170866950hg19UCSC Ensembl
Cytoband4q33
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 Variantsnssv17212746, nssv17174958
Samples
Known GenesLOC100506085
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)nsv5692041
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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