A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193125



Internal ID20760165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69371901..69382400hg38UCSC Ensembl
chr12:69765681..69776180hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461361
Supporting Variants
Samples
Known GenesYEATS4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193125
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