A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419295



Internal ID22156343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17143763..17143820hg38UCSC Ensembl
chr16:17237620..17237677hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191057
Supporting Variants
SamplesHG00514
Known GenesXYLT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14419295
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