A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17435081



Internal ID22492951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100152272..100152402hg38UCSC Ensembl
chr8:101164500..101164630hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5921964
Supporting Variants
Samples
Known GenesPOLR2K
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17435081
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