A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520378



Internal ID296709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55853352..55858123hg38UCSC Ensembl
chr17:53930713..53935484hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384772
hg194772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724781
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520378
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