A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459464



Internal ID21117017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47203100..47241538hg38UCSC Ensembl
chr12:47596883..47635321hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3838439
hg1938439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192281
Samples
Known GenesPCED1B, PCED1B-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459464
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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