A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474629



Internal ID252285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123755394..123762465hg38UCSC Ensembl
chr8:124767634..124774705hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387072
hg197072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017020
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474629
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