A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6111230



Internal ID22020463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42719285..42719285hg38UCSC Ensembl
chr22:43115291..43115291hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17642957
Samples
Known GenesA4GALT
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6111230
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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