A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234588



Internal ID21682097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32412570..32412570hg38UCSC Ensembl
chrX:32430687..32430687hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721033
Supporting Variants
Samples
Known GenesDMD
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)nssv17234588
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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