A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689812



Internal ID113478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86508128..86520700hg38UCSC Ensembl
chr12:86901905..86914477hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3812573
hg1912573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498991
Supporting Variants
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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