A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381512



Internal ID22314910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21588033..21597026hg38UCSC Ensembl
chr14:22056152..22065151hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388994
hg199000
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202483
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381512
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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