A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380227



Internal ID22438097
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 StatusS
Merged Variantsnsv5944683
Supporting Variants
Samples
Known GenesWWOX
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380227
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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