A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116930



Internal ID21458695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45367489..45367489hg38UCSC Ensembl
chr20:43996129..43996129hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381497
hg191497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5664952
Supporting Variants
SamplesHG02587
Known GenesSYS1, SYS1-DBNDD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116930
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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