A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5857710



Internal ID22632645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54329074..54332673hg38UCSC Ensembl
chr12:54722858..54726457hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415n209
Supporting Variantsnssv17452745
Samples
Known GenesCOPZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5857710
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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