A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675180



Internal ID21701501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127692945..127692945hg38UCSC Ensembl
chr2:128450519..128450519hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217672, nssv17208287
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)nsv5675180
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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