A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933498



Internal ID22708811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30390841..30390955hg38UCSC Ensembl
chr16:30402162..30402276hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372939
Samples
Known GenesZNF48
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933498
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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