A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692578



Internal ID21718899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37393331..37393331hg38UCSC Ensembl
chr6:37361107..37361107hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226488, nssv17179516
Samples
Known GenesRNF8
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)nsv5692578
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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