A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529343



Internal ID305366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78397054..78397116hg38UCSC Ensembl
chr17:76393135..76393197hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714852
Samples
Known GenesPGS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529343
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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