A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685942



Internal ID109608
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 StatusS
Merged Variantsnsv5561828
Supporting Variants
Samples
Known GenesGJA3, GJB2, GJB6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685942
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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