A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761618



Internal ID20537478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230198331..230198331hg38UCSC Ensembl
chr1:230334077..230334077hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16278669
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761618
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