A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685793



Internal ID21712114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68974811..68974811hg38UCSC Ensembl
chr2:69201943..69201943hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208015, nssv17204647
Samples
Known GenesGKN1
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)nsv5685793
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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