A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058437



Internal ID20625477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220117701..220120000hg38UCSC Ensembl
chr1:220291043..220293342hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317725
Supporting Variants
Samples
Known GenesIARS2, MIR194-1, MIR215, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058437
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00516


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