A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697016



Internal ID21723337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100573918..100573918hg38UCSC Ensembl
chr8:101586146..101586146hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185454, nssv17231149
Samples
Known GenesSNX31
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)nsv5697016
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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