A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724093



Internal ID21750414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27635873..27635873hg38UCSC Ensembl
chr16:27647194..27647194hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236036
Samples
Known GenesKIAA0556
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)nsv5724093
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