A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457228



Internal ID235278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150679826..150682952hg38UCSC Ensembl
chr5:150059388..150062514hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383127
hg193127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975718
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457228
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer