A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411451



Internal ID22297395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84428593..84430640hg38UCSC Ensembl
chr5:83724411..83726458hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202864
Supporting Variants
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)nssv14411451
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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