A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706085



Internal ID21732406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11761298..11761298hg38UCSC Ensembl
chr8:11618807..11618807hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225220
Samples
Known GenesC8orf49
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)nsv5706085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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