A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17643549



Internal ID21835596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27886472..27887618hg38UCSC Ensembl
chr22:28282460..28283606hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6046984
Supporting Variants
Samples
Known GenesPITPNB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17643549
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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