A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594323



Internal ID21542921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12851183..12851511hg38UCSC Ensembl
chr18:12851182..12851510hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100166
SamplesHG00731
Known GenesPTPN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594323
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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