A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416568



Internal ID22152334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86259791..86267051hg38UCSC Ensembl
chr12:86653569..86660829hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387261
hg197261
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202150
Supporting Variants
SamplesHG00514
Known GenesMGAT4C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416568
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