A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928941



Internal ID22704187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67315407..67315739hg38UCSC Ensembl
chr16:67349310..67349642hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380350
Samples
Known GenesKCTD19
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928941
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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