A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919067



Internal ID22694289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100015497..100027686hg38UCSC Ensembl
chr8:101027725..101039914hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3812190
hg1912190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448239
Samples
Known GenesRGS22
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919067
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