A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531271



Internal ID307233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9553679..9553817hg38UCSC Ensembl
chr20:9534326..9534464hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730778
Samples
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531271
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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