A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445904



Internal ID22241702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19489073..19489128hg38UCSC Ensembl
chr16:19500395..19500450hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191551
Supporting Variants
SamplesHG00733
Known GenesTMC5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14445904
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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