A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688278



Internal ID111944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60568101..60568168hg38UCSC Ensembl
chr13:61142235..61142302hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507149
Supporting Variants
Samples
Known GenesTDRD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688278
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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