A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239657



Internal ID21687166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:91678527..91678527hg38UCSC Ensembl
chrX:90933526..90933526hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729385
Supporting Variants
Samples
Known Genes
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)nssv17239657
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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