A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445479



Internal ID22111658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86296011..86296130hg38UCSC Ensembl
chr12:86689789..86689908hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759267
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445479
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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