A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481948



Internal ID259413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3029630..3033694hg38UCSC Ensembl
chr8:2887152..2891216hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg384065
hg194065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008110
Samples
Known GenesCSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481948
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