A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545674



Internal ID22414681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86909223..86909223hg38UCSC Ensembl
chr14:87375567..87375567hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381879
SamplesNA19240
Known GenesLOC283585
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545674
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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