A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730982



Internal ID20506899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62854863..62857836hg38UCSC Ensembl
chr8:63767422..63770395hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg382974
hg192974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264298
Samples
Known GenesNKAIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730982
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer