A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223513



Internal ID21671022
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 StatusS
Merged Variantsnsv5714957
Supporting Variants
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)nssv17223513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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