A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17431046



Internal ID22488916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5539456..5546473hg38UCSC Ensembl
chr6:5539689..5546706hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg387018
hg197018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897646
Supporting Variants
Samples
Known GenesFARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17431046
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