A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544324



Internal ID318476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9577422..9577435hg38UCSC Ensembl
chr20:9558069..9558082hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730780
Samples
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544324
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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