A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561828



Internal ID334796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20147502..20285066hg38UCSC Ensembl
chr13:20721641..20859205hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38137565
hg19137565
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685942
Samples
Known GenesGJA3, GJB2, GJB6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561828
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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