A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238622



Internal ID21686131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32587431..32587431hg38UCSC Ensembl
chr6:32555208..32555208hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714870
Supporting Variants
Samples
Known GenesHLA-DRB1
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)nssv17238622
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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