A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677568



Internal ID21703889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23323135..23323135hg38UCSC Ensembl
chr7:23362754..23362754hg19UCSC Ensembl
Cytoband7p15.3
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 Variantsnssv17181652
Samples
Known GenesIGF2BP3
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)nsv5677568
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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