A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6053343



Internal ID21962576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60467147..60467147hg38UCSC Ensembl
chr2:60694282..60694282hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536660
Samples
Known GenesBCL11A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6053343
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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