A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6053216



Internal ID21962450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226478619..226478619hg38UCSC Ensembl
chr1:226666320..226666320hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17517808
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6053216
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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