A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532227



Internal ID308155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40483094..40504893hg38UCSC Ensembl
chr17:38639346..38661145hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3821800
hg1921800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713108
Samples
Known GenesTNS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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