A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417220



Internal ID22153311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104051786..104052052hg38UCSC Ensembl
chr14:104518123..104518389hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193631
Supporting Variants
SamplesHG00514
Known GenesTDRD9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417220
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer