A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726358



Internal ID21752679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115953335..115953335hg38UCSC Ensembl
chr5:115289032..115289032hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233624, nssv17241467
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)nsv5726358
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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