A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684536



Internal ID21710857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237944764..237944764hg38UCSC Ensembl
chr1:238108064..238108064hg19UCSC Ensembl
Cytoband1q43
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 Variantsnssv17193180
Samples
Known Genes
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)nsv5684536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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