A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531034



Internal ID306997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81935054..81935442hg38UCSC Ensembl
chr17:79892930..79893318hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715627
Samples
Known GenesPYCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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