A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221562



Internal ID22365905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62971488..62971545hg38UCSC Ensembl
chr20:61602840..61602897hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5369n152
Supporting Variantsnssv14433979, nssv14457884
SamplesHG00733, 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)nsv3221562
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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