A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723277



Internal ID21749598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140651438..140651438hg38UCSC Ensembl
chr5:140031023..140031023hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252533
Samples
Known GenesIK
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)nsv5723277
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer