A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445940



Internal ID224276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205280869..205283145hg38UCSC Ensembl
chr1:205249997..205252273hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382277
hg192277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894764
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445940
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