A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728541



Internal ID21754862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105921869..105921869hg38UCSC Ensembl
chrX:105165861..105165861hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38632
hg19632
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244112
Samples
Known GenesNRK
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)nsv5728541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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