A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5922492



Internal ID22697717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47763115..47766274hg38UCSC Ensembl
chr8:48675676..48678835hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383160
hg193160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440973
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5922492
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