A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554758



Internal ID20927849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50311988..50385638hg38UCSC Ensembl
chr22:50750417..50824067hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3873651
hg1973651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205722
Samples
Known GenesDENND6B, PPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554758
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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