A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751966



Internal ID20527826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49913667..49913667hg38UCSC Ensembl
chr3:49951100..49951100hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273676
Samples
Known GenesMON1A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751966
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