A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005819



Internal ID20572859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93434959..93438392hg38UCSC Ensembl
chr12:93828735..93832168hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383434
hg193434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457647
Supporting Variants
Samples
Known GenesUBE2N
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005819
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