A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478020



Internal ID255584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96543866..96543943hg38UCSC Ensembl
chr8:97556094..97556171hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016124
Samples
Known GenesSDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478020
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