A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6544250



Internal ID20917489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29436339..29439382hg38UCSC Ensembl
chr22:29832328..29835371hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383044
hg193044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204974
Samples
Known GenesRFPL1, RFPL1S
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6544250
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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