A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381111



Internal ID22438981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39553366..39600244hg38UCSC Ensembl
chr18:37133330..37180208hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3846879
hg1946879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942566
Supporting Variants
Samples
Known GenesLINC00669
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381111
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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