A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244592



Internal ID21692101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78006739..78006739hg38UCSC Ensembl
chr5:77302563..77302563hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718889
Supporting Variants
Samples
Known GenesAP3B1
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)nssv17244592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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