A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485238



Internal ID262634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67980290..68318430hg38UCSC Ensembl
chr10:69740047..70078187hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38338141
hg19338141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037377
Samples
Known GenesATOH7, HERC4, MYPN, PBLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485238
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