A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987916



Internal ID21897259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218319925..218320268hg38UCSC Ensembl
chr2:219184648..219184991hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527998
Samples
Known GenesPNKD
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987916
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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