A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542590



Internal ID20915848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47032537..47035483hg38UCSC Ensembl
chr22:47428433..47431379hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382947
hg192947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075014
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542590
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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