A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533598



Internal ID309486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4946821..4948262hg38UCSC Ensembl
chr17:4850116..4851557hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381442
hg191442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711019
Samples
Known GenesPFN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533598
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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