A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723976



Internal ID21750297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63633604..63633604hg38UCSC Ensembl
chr14:64100322..64100322hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241169
Samples
Known GenesWDR89
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)nsv5723976
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