A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742009



Internal ID20517988
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 StatusM
Merged Variants
Supporting Variantsnssv16283119
Samples
Known GenesGJB6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742009
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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