A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465986



Internal ID22221807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78829993..78847503hg38UCSC Ensembl
chr18:76589993..76607503hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3817511
hg1917511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219655
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465986
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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