A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239525



Internal ID21687034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:122696130..122696130hg38UCSC Ensembl
chr6:123017275..123017275hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728251
Supporting Variants
Samples
Known GenesPKIB
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)nssv17239525
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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