A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723142



Internal ID21749463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31251041..31251041hg38UCSC Ensembl
chrX:31269158..31269158hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231427
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)nsv5723142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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