A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522329



Internal ID298599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32901133..32907726hg38UCSC Ensembl
chr19:33392039..33398632hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg386594
hg196594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722845
Samples
Known GenesCEP89
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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