A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488258



Internal ID265577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:8058984..8059039hg38UCSC Ensembl
chr10:8100947..8101002hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029064
Samples
Known GenesGATA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488258
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