A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690800



Internal ID21717121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98531743..98531743hg38UCSC Ensembl
chr4:99452894..99452894hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17173799
Samples
Known GenesTSPAN5
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)nsv5690800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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