A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194390



Internal ID22344707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46359346..46359412hg38UCSC Ensembl
chr12:46753129..46753195hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422406
SamplesHG00514
Known GenesSLC38A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194390
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