A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360424



Internal ID22586093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153615325..153617829hg38UCSC Ensembl
chr1:153587801..153590305hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382505
hg192505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871518
Supporting Variants
Samples
Known GenesS100A14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360424
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