A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406783



Internal ID22464653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53050111..53050111hg38UCSC Ensembl
chr20:51666650..51666650hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976303
Supporting Variants
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406783
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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