A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234238



Internal ID20801278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22285745..22480580hg38UCSC Ensembl
chr8:22143258..22338093hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38194836
hg19194836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423589
Supporting Variants
Samples
Known GenesPIWIL2, PPP3CC, SLC39A14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234238
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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