A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457918



Internal ID21115471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86402432..87522624hg38UCSC Ensembl
chr12:86796210..87916401hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381120193
hg191120192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179684
Samples
Known GenesMGAT4C, MIR548AL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457918
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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