A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681561



Internal ID21707882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35402836..35402836hg38UCSC Ensembl
chr1:35868437..35868437hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199739
Samples
Known GenesZMYM4
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)nsv5681561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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