A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178356



Internal ID20745396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113987277..114145761hg38UCSC Ensembl
chr12:114425082..114583566hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38158485
hg19158485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477696
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178356
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