A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188025



Internal ID20755065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115887645..115972138hg38UCSC Ensembl
chr12:116325450..116409943hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3884494
hg1984494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479489
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188025
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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