A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220206



Internal ID21667715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81362344..81362344hg38UCSC Ensembl
chrX:80617843..80617843hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715814
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)nssv17220206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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