A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684251



Internal ID21710572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44237687..44237687hg38UCSC Ensembl
chr4:44239704..44239704hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221224
Samples
Known GenesKCTD8
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)nsv5684251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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