A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182766



Internal ID20749806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20601..24500hg38UCSC Ensembl
chr12:81240..85139hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474904
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182766
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.34716


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