A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456800



Internal ID234860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138741010..138753444hg38UCSC Ensembl
chr6:139062147..139074581hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3812435
hg1912435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970840
Samples
Known GenesLOC100507462
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456800
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