A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463944



Internal ID21121497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86732772..86788778hg38UCSC Ensembl
chr12:87126549..87182555hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3856007
hg1956007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183277
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463944
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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