A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117789



Internal ID21421648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63942260..63942260hg38UCSC Ensembl
chr20:62573613..62573613hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665065
Supporting Variants
SamplesHG00731
Known GenesUCKL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117789
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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