A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674433



Internal ID21700754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44555740..44555740hg38UCSC Ensembl
chr3:44597232..44597232hg19UCSC Ensembl
Cytoband3p21.31
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 Variantsnssv17215465
Samples
Known GenesZKSCAN7
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)nsv5674433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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