A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547259



Internal ID20920461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36305779..36516506hg38UCSC Ensembl
chr22:36701825..36912553hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38210728
hg19210729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204615
Samples
Known GenesEIF3D, FOXRED2, MYH9, TXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547259
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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