A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195056



Internal ID22345289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753893..53753997hg38UCSC Ensembl
chr12:54147677..54147781hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384568
SamplesNA19240
Known GenesCISTR-ACT
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195056
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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