A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447990



Internal ID22243511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18534546..18534673hg38UCSC Ensembl
chr19:18645356..18645483hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206564
Supporting Variants
SamplesHG00733
Known GenesFKBP8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447990
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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