A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933716



Internal ID22709031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86069101..86069190hg38UCSC Ensembl
chr12:86462879..86462968hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350051
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933716
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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