A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465552



Internal ID21123105
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 StatusM
Merged Variants
Supporting Variantsnssv18178071
Samples
Known GenesGLT8D2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465552
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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