A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714957



Internal ID21741278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17738737..17738737hg38UCSC Ensembl
chrX:17756857..17756857hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234185, nssv17223513
Samples
Known GenesSCML1
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)nsv5714957
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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