A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394118



Internal ID22451988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133414868..133415058hg38UCSC Ensembl
chr3:133133712..133133902hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905062
Supporting Variants
Samples
Known GenesBFSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394118
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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