A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414215



Internal ID22472085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157680628..157719093hg38UCSC Ensembl
chr5:157107636..157146101hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3838466
hg1938466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895852
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414215
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