A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944683



Internal ID22720152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:78427920..78435350hg38UCSC Ensembl
chr16:78461817..78469247hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg387431
hg197431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380227
Samples
Known GenesWWOX
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944683
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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