A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5601822



Internal ID21550473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52991705..52991784hg38UCSC Ensembl
chr20:51608244..51608323hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116619
SamplesHG00171
Known GenesTSHZ2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5601822
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