A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528322



Internal ID304383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18272108..18274235hg38UCSC Ensembl
chr17:18175422..18177549hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382128
hg192128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711895
Samples
Known GenesTOP3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528322
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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