A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18004779



Internal ID20571819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86007201..86008800hg38UCSC Ensembl
chr12:86400979..86402578hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457989
Supporting Variants
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18004779
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0014


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