A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16270167



Internal ID20479385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41544419..41544419hg38UCSC Ensembl
chr22:41940423..41940423hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4761034
Supporting Variants
Samples
Known GenesPOLR3H
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16270167
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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