A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448058



Internal ID22243569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52289772..52290007hg38UCSC Ensembl
chr19:52793025..52793260hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209408
Supporting Variants
SamplesHG00733
Known GenesZNF766
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448058
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