A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486310



Internal ID263679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123213745..123218556hg38UCSC Ensembl
chr8:124225985..124230796hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384812
hg194812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735858
Samples
Known GenesMIR4663
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486310
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