A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204583



Internal ID20771623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33728522..33738828hg38UCSC Ensembl
chr22:34124508..34134814hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3810307
hg1910307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6547066
Supporting Variants
Samples
Known GenesLARGE, LARGE-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204583
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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