A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225498



Internal ID22368605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84072835..84129259hg38UCSC Ensembl
chr12:84466614..84523038hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3856425
hg1956425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1926n152
Supporting Variantsnssv14396834
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)nsv3225498
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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