A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471316



Internal ID249056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185666969..185670403hg38UCSC Ensembl
chr4:186588123..186591557hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383435
hg193435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960316
Samples
Known GenesSORBS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471316
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