A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355119



Internal ID22580788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189021611..189022473hg38UCSC Ensembl
chr1:188990742..188991604hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868375
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355119
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