A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179380



Internal ID20746420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93836558..93846425hg38UCSC Ensembl
chr12:94230334..94240201hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg389868
hg199868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475172
Supporting Variants
Samples
Known GenesCRADD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179380
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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