A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17528255



Internal ID21852612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222280272..222280334hg38UCSC Ensembl
chr2:223144991..223145053hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5987714
Supporting Variants
Samples
Known GenesPAX3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17528255
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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