A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190519



Internal ID22341371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28200962..28201015hg38UCSC Ensembl
chr12:28353895..28353948hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394486
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190519
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