A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221879



Internal ID21669388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15634969..15634969hg38UCSC Ensembl
chrX:15653092..15653092hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385594
hg195594
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730510
Supporting Variants
Samples
Known GenesTMEM27
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)nssv17221879
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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