A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6103388



Internal ID22012623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48152694..48152694hg38UCSC Ensembl
chr19:48655951..48655951hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17620635
Samples
Known GenesLIG1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6103388
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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