A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534934



Internal ID229464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34298468..34298468hg38UCSC Ensembl
chr6:34266245..34266245hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982052
Samples
Known GenesNUDT3, RPS10-NUDT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534934
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