A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728613



Internal ID21754934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75549134..75549134hg38UCSC Ensembl
chrX:74768969..74768969hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226728
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)nsv5728613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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