A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18074530



Internal ID20641570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41689561..41802762hg38UCSC Ensembl
chr22:42085565..42198766hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38113202
hg19113202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6537706
Supporting Variants
Samples
Known GenesC22orf46, CCDC134, MEI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18074530
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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