A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531844



Internal ID307787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58531853..58532031hg38UCSC Ensembl
chr17:56609214..56609392hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713814
Samples
Known GenesSEPT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531844
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