A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690690



Internal ID21717011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151373877..151373877hg38UCSC Ensembl
chr6:151695012..151695012hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229303, nssv17180735
Samples
Known GenesZBTB2
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)nsv5690690
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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