A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283673



Internal ID22382024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49820992..49821520hg38UCSC Ensembl
chr14:50287710..50288238hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2619n152
Supporting Variantsnssv14430886
SamplesHG00514
Known GenesNEMF
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)nsv3283673
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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