A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201785



Internal ID22351037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116277338..116277455hg38UCSC Ensembl
chr12:116715143..116715260hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2009n152
Supporting Variantsnssv14444055
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201785
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