A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358256



Internal ID22583925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19189137..19189241hg38UCSC Ensembl
chr1:19515631..19515735hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869137
Supporting Variants
Samples
Known GenesUBR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358256
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