A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6050417



Internal ID21959650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240805040..240805040hg38UCSC Ensembl
chr2:241744457..241744457hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525646
Samples
Known GenesKIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6050417
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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