A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461990



Internal ID239930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26672000..26930000hg38UCSC Ensembl
chr6:26672228..26897779hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38258001
hg19225552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982399
Samples
Known GenesGUSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461990
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