A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518414



Internal ID294802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29671945..29681352hg38UCSC Ensembl
chr16:29683266..29692673hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg389408
hg199408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707622
Samples
Known GenesQPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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