A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718221



Internal ID21744542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88710638..88710638hg38UCSC Ensembl
chr4:89631789..89631789hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247610
Samples
Known GenesFAM13A-AS1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5718221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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