A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527579



Internal ID303673
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 StatusM
Merged Variants
Supporting Variantsnssv17730886
Samples
Known GenesBTBD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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