A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550822



Internal ID20923963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38690744..38706804hg38UCSC Ensembl
chr22:39086749..39102809hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3816061
hg1916061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204655
Samples
Known GenesGTPBP1, JOSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550822
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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