A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901816



Internal ID2005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45517817..45517911hg38UCSC Ensembl
chr1:45983489..45983583hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430048
Supporting Variants
Samples
Known GenesPRDX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901816
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.500784


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