A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239547



Internal ID21687056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201888622..201888622hg38UCSC Ensembl
chr2:202753345..202753345hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725932
Supporting Variants
Samples
Known GenesCDK15
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)nssv17239547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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