A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683872



Internal ID21710193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243920041..243920041hg38UCSC Ensembl
chr1:244083343..244083343hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193833, nssv17207831
Samples
Known GenesLOC339529
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)nsv5683872
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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