A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729782



Internal ID21756103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120559022..120559022hg38UCSC Ensembl
chrX:119692877..119692877hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg381474
hg191474
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245125, nssv17248594
Samples
Known GenesCUL4B
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)nsv5729782
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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