A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207914



Internal ID22356242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76119698..76123599hg38UCSC Ensembl
chr12:76513478..76517379hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1908n152
Supporting Variantsnssv14395675, nssv14395676
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)nsv3207914
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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