A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469305



Internal ID21126858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86305118..86367836hg38UCSC Ensembl
chr12:86698896..86761614hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3862719
hg1962719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185379
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469305
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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