A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228798



Internal ID22370868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100286901..100289050hg38UCSC Ensembl
chr14:100753238..100755387hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382150
hg192150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2743n152
Supporting Variantsnssv14405281
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228798
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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