A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528091



Internal ID304163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81849376..81853454hg38UCSC Ensembl
chr17:79807252..79811330hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384079
hg194079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715616
Samples
Known GenesP4HB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528091
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