A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478549



Internal ID22536451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51111445..51120487hg38UCSC Ensembl
chr18:48637815..48646857hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389043
hg199043
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880521
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478549
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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