A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047308



Internal ID21956541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29119992..29120644hg38UCSC Ensembl
chr22:29515980..29516632hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17640291
Samples
Known GenesKREMEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047308
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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