A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690849



Internal ID21717170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34405680..34405680hg38UCSC Ensembl
chr6:34373457..34373457hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227525
Samples
Known GenesRPS10-NUDT3
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)nsv5690849
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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