A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678103



Internal ID21704424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45653920..45653920hg38UCSC Ensembl
chr6:45621657..45621657hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177338, nssv17228992
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)nsv5678103
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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