A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5922519



Internal ID22697744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125416220..125420442hg38UCSC Ensembl
chr11:125286116..125290338hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384223
hg194223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359557
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5922519
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