A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473596



Internal ID251282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:177295977..177381983hg38UCSC Ensembl
chr4:178217131..178303137hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3886007
hg1986007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959379
Samples
Known GenesNEIL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer