A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17528517



Internal ID21852874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47184279..47184672hg38UCSC Ensembl
chr1:47649951..47650344hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5984591
Supporting Variants
Samples
Known GenesPDZK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17528517
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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