A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445459



Internal ID22241310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59384150..59384150hg38UCSC Ensembl
chr14:59850868..59850868hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550235
Supporting Variants
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)nssv14445459
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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