A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752817



Internal ID20528677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116124133..116124133hg38UCSC Ensembl
chr12:116561938..116561938hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272052
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752817
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer