A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984591



Internal ID21893934
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 StatusM
Merged Variants
Supporting Variantsnssv17528517
Samples
Known GenesPDZK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984591
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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