A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116620



Internal ID21459874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53050146..53050146hg38UCSC Ensembl
chr20:51666685..51666685hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5671400
Supporting Variants
SamplesHG02818
Known GenesTSHZ2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116620
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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