A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192112



Internal ID20759152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62384984..62412282hg38UCSC Ensembl
chr12:62778765..62806062hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3827299
hg1927298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464024
Supporting Variants
Samples
Known GenesUSP15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192112
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