A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730886



Internal ID154552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11822378..12307516hg38UCSC Ensembl
chr20:11803026..12288164hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38485139
hg19485139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527579
Supporting Variants
Samples
Known GenesBTBD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730886
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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