A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054667



Internal ID20621707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182291536..182291985hg38UCSC Ensembl
chr1:182260671..182261120hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328347
Supporting Variants
Samples
Known GenesLOC400799
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054667
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00081


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