A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208293



Internal ID22356560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33724801..33728150hg38UCSC Ensembl
chr2:33949868..33953217hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4545n152
Supporting Variantsnssv14407056, nssv14432996
SamplesNA19240, HG00514
Known GenesMYADML
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208293
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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