A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18080056



Internal ID20647096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180355584..180356114hg38UCSC Ensembl
chr2:181220311..181220841hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337012
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18080056
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00066


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