A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405047



Internal ID22462917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112201698..112201893hg38UCSC Ensembl
chr3:111920545..111920740hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898352
Supporting Variants
Samples
Known GenesSLC9C1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405047
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