A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208271



Internal ID20775311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199908801..199912800hg38UCSC Ensembl
chr2:200773524..200777523hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354795
Supporting Variants
Samples
Known GenesC2orf69
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208271
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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