A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727396



Internal ID21753717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:69997796..69997796hg38UCSC Ensembl
chrX:69217646..69217646hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227512
Samples
Known GenesEDA
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)nsv5727396
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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