A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116796



Internal ID21449844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50198110..50198110hg38UCSC Ensembl
chr20:48814647..48814647hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665454
Supporting Variants
SamplesHG01114
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116796
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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