A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717520



Internal ID21743841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124390763..124390763hg38UCSC Ensembl
chrX:123524613..123524613hg19UCSC Ensembl
CytobandXq25
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 Variantsnssv17238520
Samples
Known GenesTENM1
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)nsv5717520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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