A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539983



Internal ID314832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239048290..239048306hg38UCSC Ensembl
chr1:239211590..239211606hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898043
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539983
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