A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676661



Internal ID21702982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7124567..7124567hg38UCSC Ensembl
chr6:7124800..7124800hg19UCSC Ensembl
Cytoband6p24.3
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 Variantsnssv17178650, nssv17226987
Samples
Known GenesRREB1
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)nsv5676661
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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