A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416885



Internal ID22474755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179737781..179737862hg38UCSC Ensembl
chr5:179164782..179164863hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893429
Supporting Variants
Samples
Known GenesMAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416885
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.082


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