A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971420



Internal ID22746355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69207954..69207954hg38UCSC Ensembl
chr16:69241857..69241857hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384858
Samples
Known GenesSNTB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971420
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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