A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553649



Internal ID20926760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46897412..47095882hg38UCSC Ensembl
chr22:47293308..47491778hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38198471
hg19198471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205057
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6553649
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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