A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681216



Internal ID21707537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235558563..235558563hg38UCSC Ensembl
chr1:235721863..235721863hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207057, nssv17190960
Samples
Known GenesGNG4
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)nsv5681216
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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