A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515786



Internal ID292261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31855887..31866419hg38UCSC Ensembl
chr17:30182906..30193438hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3810533
hg1910533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712604
Samples
Known GenesCOPRS, UTP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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