A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17228892



Internal ID21676401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20618970..20618970hg38UCSC Ensembl
chrX:20637088..20637088hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727961
Supporting Variants
Samples
Known Genes
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)nssv17228892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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