A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596345



Internal ID20969416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43536560..43538685hg38UCSC Ensembl
chr22:43932440..43934565hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382126
hg192126
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18255051
Samples
Known GenesEFCAB6, EFCAB6-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596345
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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