A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728732



Internal ID21755053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68871900..68871900hg38UCSC Ensembl
chr17:66868041..66868041hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243472
Samples
Known GenesABCA8
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)nsv5728732
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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