A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559812



Internal ID332835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80222528..80222540hg38UCSC Ensembl
chr17:78196327..78196339hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3813
hg1913
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714982
Samples
Known GenesSLC26A11
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559812
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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