A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178071



Internal ID20745111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104005649..104039549hg38UCSC Ensembl
chr12:104399427..104433327hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3833901
hg1933901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465552
Supporting Variants
Samples
Known GenesGLT8D2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178071
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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