A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2802251



Internal ID21247589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45208140..45208319hg38UCSC Ensembl
chr20:43836781..43836960hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13688078
Samples
Known GenesSEMG1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2802251
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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