A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3298872



Internal ID22388879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32176436..32176788hg38UCSC Ensembl
chr20:30764239..30764591hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433525, nssv14452919
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3298872
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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