A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679957



Internal ID21706278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:100428644..100428644hg38UCSC Ensembl
chr6:100876520..100876520hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227163, nssv17178620
Samples
Known GenesSIM1
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)nsv5679957
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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