A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551811



Internal ID20924944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48580712..48743667hg38UCSC Ensembl
chr22:48976524..49139479hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38162956
hg19162956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205670
Samples
Known GenesFAM19A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551811
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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