A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459568



Internal ID21117121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86778939..86782552hg38UCSC Ensembl
chr12:87172716..87176329hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg383614
hg193614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18005156
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459568
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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