A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196488



Internal ID22346487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76120430..76123396hg38UCSC Ensembl
chr12:76514210..76517176hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382967
hg192967
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1908n152
Supporting Variantsnssv14421755, nssv14421754
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196488
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