A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546197



Internal ID320174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86340399..86340406hg38UCSC Ensembl
chr12:86734177..86734184hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689803
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546197
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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