A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208269



Internal ID20775309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199844801..199855600hg38UCSC Ensembl
chr2:200709524..200720323hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352451
Supporting Variants
Samples
Known GenesFTCDNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208269
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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