A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726019



Internal ID21752340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53351703..53351703hg38UCSC Ensembl
chr5:52647533..52647533hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236073
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5726019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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