A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508457



Internal ID285146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73301956..73320101hg38UCSC Ensembl
chr14:73768664..73786809hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3818146
hg1918146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696082
Samples
Known GenesNUMB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508457
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