A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1693n152



Internal ID22817396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5638472..5638922hg38UCSC Ensembl
chr12:5747638..5748088hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3201187, nsv3209572
SamplesNA19240, HG00514
Known GenesANO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1693n152
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