A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681338



Internal ID21707659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42452998..42452998hg38UCSC Ensembl
chr1:42918669..42918669hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207334, nssv17206510
Samples
Known GenesZMYND12
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)nsv5681338
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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