A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675591



Internal ID21701912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174310641..174310641hg38UCSC Ensembl
chr2:175175369..175175369hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17206065, nssv17215788
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)nsv5675591
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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