A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249441



Internal ID21696950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:126986683..126986683hg38UCSC Ensembl
chrX:126120666..126120666hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381261
hg191261
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716648
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)nssv17249441
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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