A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730510



Internal ID21756831
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 StatusM
Merged Variants
Supporting Variantsnssv17221879
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)nsv5730510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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