A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714536



Internal ID21740857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38225783..38225783hg38UCSC Ensembl
chrX:38085036..38085036hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241581
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)nsv5714536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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