A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17232004



Internal ID21679513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24548746..24548746hg38UCSC Ensembl
chrX:24566863..24566863hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726988
Supporting Variants
Samples
Known GenesPDK3
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)nssv17232004
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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