A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525631



Internal ID301783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28416480..28418784hg38UCSC Ensembl
chr17:26743498..26745802hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382305
hg192305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712355
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525631
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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