A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517227



Internal ID293653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30548509..30556202hg38UCSC Ensembl
chr17:28875527..28883220hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387694
hg197694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712488
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517227
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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