A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712100



Internal ID21738421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31171833..31171833hg38UCSC Ensembl
chr8:31029349..31029349hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184217
Samples
Known GenesWRN
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)nsv5712100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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