A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18074346



Internal ID20641386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42710457..42717838hg38UCSC Ensembl
chr22:43106463..43113844hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg387382
hg197382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6553192
Supporting Variants
Samples
Known GenesA4GALT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18074346
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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