A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288910



Internal ID22387327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49820975..49821503hg38UCSC Ensembl
chr14:50287693..50288221hg19UCSC 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 Variantsnssv14405601
SamplesNA19240
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)nsv3288910
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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