A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228262



Internal ID22370510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6462475..6462574hg38UCSC Ensembl
chr20:6443122..6443221hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5167n152
Supporting Variantsnssv14407611
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)nsv3228262
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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