A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18080036



Internal ID20647076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180192479..180195788hg38UCSC Ensembl
chr2:181057206..181060515hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336355
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18080036
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