A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459786



Internal ID22212328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101970149..101970842hg38UCSC Ensembl
chr14:102436486..102437179hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199920
Supporting Variants
SamplesHG00733
Known GenesDYNC1H1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14459786
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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