A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723530



Internal ID21749851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38533860..38533860hg38UCSC Ensembl
chrX:38393113..38393113hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219700
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)nsv5723530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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