A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515726



Internal ID292204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2422782..2426580hg38UCSC Ensembl
chr17:2326076..2329874hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383799
hg193799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710925
Samples
Known GenesMETTL16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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