A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212999



Internal ID22360085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89567507..89567574hg38UCSC Ensembl
chr14:90033851..90033918hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2713n152
Supporting Variantsnssv14404525
SamplesNA19240
Known GenesFOXN3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212999
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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