A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6545283



Internal ID20918513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27844529..27853972hg38UCSC Ensembl
chr22:28240517..28249960hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg389444
hg199444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204956
Samples
Known GenesPITPNB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6545283
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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