A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544383



Internal ID22413422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104193716..104193716hg38UCSC Ensembl
chr14:104660053..104660053hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445059
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)nsv3544383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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