A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450780



Internal ID228976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244842725..244842924hg38UCSC Ensembl
chr1:245006027..245006226hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897718
Samples
Known GenesCOX20, HNRNPU-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450780
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