A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728917



Internal ID21755238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28493775..28493775hg38UCSC Ensembl
chr16:28505096..28505096hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248456, nssv17245294
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)nsv5728917
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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