A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5922723



Internal ID22697948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124432243..124432321hg38UCSC Ensembl
chr8:125444484..125444562hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446096
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5922723
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