A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550590



Internal ID20923729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28660720..28732568hg38UCSC Ensembl
chr22:29056708..29128556hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3871849
hg1971849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204966
Samples
Known GenesCHEK2, TTC28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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