A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516121



Internal ID292586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58921412..58930165hg38UCSC Ensembl
chr17:56998773..57007526hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388754
hg198754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713843
Samples
Known GenesPPM1E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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