A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4762420



Internal ID20538280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101890489..101890489hg38UCSC Ensembl
chr12:102284267..102284267hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285098
Samples
Known GenesDRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4762420
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