A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058785



Internal ID20625825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233125401..233128700hg38UCSC Ensembl
chr1:233261147..233264446hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331858
Supporting Variants
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058785
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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