A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716747



Internal ID21743068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57685723..57685723hg38UCSC Ensembl
chr19:58197091..58197091hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242972, nssv17251948
Samples
Known GenesZNF551
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)nsv5716747
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