A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17226488



Internal ID21673997
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 StatusS
Merged Variantsnsv5692578
Supporting Variants
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)nssv17226488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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