A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6053223



Internal ID21962457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127221583..127221583hg38UCSC Ensembl
chr2:127979159..127979159hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534318
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6053223
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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