A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729856



Internal ID21756177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64332152..64332152hg38UCSC Ensembl
chrX:63552032..63552032hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226228
Samples
Known GenesMTMR8
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)nsv5729856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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