A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554320



Internal ID20927423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38425729..38430245hg38UCSC Ensembl
chr22:38821734..38826250hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384517
hg194517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204647
Samples
Known GenesKCNJ4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554320
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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