A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6086143



Internal ID21995376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19197694..19197694hg38UCSC Ensembl
chr12:19350628..19350628hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610653
Samples
Known GenesPLEKHA5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6086143
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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