A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984974



Internal ID21894317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88713787..88727432hg38UCSC Ensembl
chr1:89179470..89193115hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3813646
hg1913646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523929
Samples
Known GenesPKN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984974
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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