A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2009n152



Internal ID22817712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116277336..116277455hg38UCSC Ensembl
chr12:116715141..116715260hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3201785, nsv3197515, nsv3203178
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2009n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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