A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486839



Internal ID264192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39657430..39729810hg38UCSC Ensembl
chr8:39514949..39587329hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3872381
hg1972381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009612
Samples
Known GenesADAM18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486839
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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