A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689279



Internal ID21715600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37849715..37849715hg38UCSC Ensembl
chr1:38315387..38315387hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203931
Samples
Known GenesMTF1
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)nsv5689279
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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