A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554192



Internal ID20927298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31436600..31447401hg38UCSC Ensembl
chr22:31832586..31843387hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3810802
hg1910802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205017
Samples
Known GenesEIF4ENIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554192
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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