A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16279723



Internal ID20488941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50809791..50809791hg38UCSC Ensembl
chr18:48336161..48336161hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4755150
Supporting Variants
Samples
Known GenesMRO
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16279723
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