A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979707



Internal ID22754642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6544393..6544393hg38UCSC Ensembl
chr18:6544392..6544392hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374723
Samples
Known GenesC18orf64
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979707
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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