A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14467586



Internal ID22223527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86287024..86287107hg38UCSC Ensembl
chr14:86753368..86753451hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284490
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14467586
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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