A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16283119



Internal ID20492337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20227921..20229162hg38UCSC Ensembl
chr13:20802060..20803301hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742009
Supporting Variants
Samples
Known GenesGJB6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16283119
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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