A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5923471



Internal ID22698698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60980614..60984618hg38UCSC Ensembl
chr8:61893173..61897177hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg384005
hg194005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440914
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5923471
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