A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116335



Internal ID21473239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31444314..31444314hg38UCSC Ensembl
chr20:30032117..30032117hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668341
Supporting Variants
SamplesHG03371
Known GenesDEFB123
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116335
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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