A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6541031



Internal ID20914316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42962792..43048507hg38UCSC Ensembl
chr22:43358798..43444513hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3885716
hg1985716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207522
Samples
Known GenesPACSIN2, TTLL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6541031
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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