A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945356



Internal ID22720832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29671945..29681350hg38UCSC Ensembl
chr16:29683266..29692671hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg389406
hg199406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389297
Samples
Known GenesQPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945356
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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