A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550548



Internal ID20923687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42943499..42952536hg38UCSC Ensembl
chr22:43339505..43348542hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389038
hg199038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074361
Samples
Known GenesPACSIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550548
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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