A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685946



Internal ID109612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20228660..20260571hg38UCSC Ensembl
chr13:20802799..20834710hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3831912
hg1931912
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143843
Supporting Variants
Samples
Known GenesGJB6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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